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<meta name="keywords" content="C0026847, amyotrophies, spinal, amyotrophy, spinal, atrophy, spinal muscular, disease or syndrome, gemin2, muscular atrophy, spinal, progressive spinal muscular atrophy, sma, sma - spinal muscular atrophy, smn1, smndc1, spinal amyotrophies, spinal amyotrophy, spinal muscle degeneration, spinal muscle wasting, spinal muscular atrophy, spinal muscular atrophy (smn1), spinal muscular atrophy (smn2), autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The onset of weakness ranges from before birth to adulthood. The weakness is symmetric, proximal greater than distal, and progressive. Before the genetic basis of SMA was understood, it was classified into clinical subtypes based on maximum motor function achieved; however, it is now apparent that the phenotype of SMN1-associated SMA spans a continuum without clear delineation of subtypes. With supportive care only, poor weight gain with growth failure, restrictive lung disease, scoliosis, and joint contractures are common complications; however, newly available targeted treatment options are changing the natural history of the disease." /><meta name="robots" content="index,nofollow,noarchive" />
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<div><div class="rprt full-rprt"><div class="portlet" style="border-top-style: none; margin-top: 0px; padding-top: 0px; margin-bottom: 0px; padding-left: 0.2em;">
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||
<!--
|
||
UID=7755
|
||
ConceptID=C0026847
|
||
-->
|
||
<!--imgCountBooks = 1--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Image</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1352/bin/sma-Image001.gif" src-large="/books/NBK1352/bin/sma-Image001.jpg" /></a><br /><a href="/books/NBK1352/figure/sma.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Spinal muscular atrophy<span class="h1sub">(SMA)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7755</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0026847</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>SMA; Spinal Muscular Atrophy (SMN1); Spinal Muscular Atrophy (SMN2)</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>SMA - Spinal muscular atrophy (5262007); Progressive spinal muscular atrophy (5262007); Spinal muscular atrophy (5262007)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Genes (locations):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="GEMIN2 - ID: 8487 - NCBI Gene" href="/gene/8487" class="medgenPMinfo">GEMIN2</a> (14q21.1); <a target="_blank" title="SMN1 - ID: 6606 - NCBI Gene" href="/gene/6606" class="medgenPMinfo">SMN1</a> (5q13.2); <a target="_blank" title="SMNDC1 - ID: 10285 - NCBI Gene" href="/gene/10285" class="medgenPMinfo">SMNDC1</a> (10q25.2)</td></tr>
|
||
<tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related gene:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/6607">SMN2</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0007269">HP:0007269</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0001516" target="_blank">MONDO:0001516</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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||
<div class="portlet mgSection" id="ID_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1352" target="_blank">Spinal Muscular Atrophy</a></div><div>Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The onset of weakness ranges from before birth to adulthood. The weakness is symmetric, proximal greater than distal, and progressive. Before the genetic basis of SMA was understood, it was classified into clinical subtypes based on maximum motor function achieved; however, it is now apparent that the phenotype of SMN1-associated SMA spans a continuum without clear delineation of subtypes. With supportive care only, poor weight gain with growth failure, restrictive lung disease, scoliosis, and joint contractures are common complications; however, newly available targeted treatment options are changing the natural history of the disease. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1352#sma.Summary" target="NBK1352">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1352#sma.GeneReview_Scope" target="NBK1352">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK1352#sma.Diagnosis" target="NBK1352">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1352#sma.Clinical_Characteristics" target="NBK1352">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1352#sma.Genetically_Related_Allelic_Disorder" target="NBK1352">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1352#sma.Differential_Diagnosis" target="NBK1352">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1352#sma.Management" target="NBK1352">Management</a> | <a class="medgenPMinfo" href="/books/NBK1352#sma.Genetic_Counseling" target="NBK1352">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1352#sma.Resources" target="NBK1352">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1352#sma.Molecular_Genetics" target="NBK1352">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1352#sma.Chapter_Notes" target="NBK1352">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1352#sma.References" target="NBK1352">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Thomas W Prior | Meganne E Leach | Erika L Finanger <a href="/books/NBK1352" target="NBK1352" title="NCBI Bookshelf: Spinal Muscular Atrophy">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0026847[DISCUI]&test_type=Clinical" ref="ncbi_uid=7755">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1352/" ref="ncbi_uid=7755">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=7755" ref="ncbi_uid=7755">V</a></span></span><span class="TLline">Spinal muscular atrophy</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0152109[DISCUI]&test_type=Clinical" ref="ncbi_uid=101816">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=101816" target="_blank" href="/omim/253400">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1352/" ref="ncbi_uid=101816">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=101816" ref="ncbi_uid=101816">V</a></span></span><span class="TLline"><a href="/medgen/101816" ref="tree=GTR&ncbi_uid=101816&link_uid=101816" title="View MedGen record for 'Kugelberg-Welander disease'">Kugelberg-Welander disease</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0393538[DISCUI]&test_type=Clinical" ref="ncbi_uid=95975">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=95975" target="_blank" href="/omim/253550">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1352/" ref="ncbi_uid=95975">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=95975" ref="ncbi_uid=95975">V</a></span></span><span class="TLline"><a href="/medgen/95975" ref="tree=GTR&ncbi_uid=95975&link_uid=95975" title="View MedGen record for 'Spinal muscular atrophy, type II'">Spinal muscular atrophy, type II</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1838230[DISCUI]&test_type=Clinical" ref="ncbi_uid=325364">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=325364" target="_blank" href="/omim/271150">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1352/" ref="ncbi_uid=325364">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=325364" ref="ncbi_uid=325364">V</a></span></span><span class="TLline"><a href="/medgen/325364" ref="tree=GTR&ncbi_uid=325364&link_uid=325364" title="View MedGen record for 'Spinal muscular atrophy, type IV'">Spinal muscular atrophy, type IV</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5848259[DISCUI]&test_type=Clinical" ref="ncbi_uid=1845578">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1845578" target="_blank" href="/omim/253300">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1352/" ref="ncbi_uid=1845578">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1845578" ref="ncbi_uid=1845578">V</a></span></span><span class="TLline"><a href="/medgen/1845578" ref="tree=GTR&ncbi_uid=1845578&link_uid=1845578" title="View MedGen record for 'Werdnig-Hoffmann disease'">Werdnig-Hoffmann disease</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/14336" ref="tree=MeSH" title="MedGen record for Disorder of nervous system">Disorder of nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/101195" ref="tree=MeSH" title="MedGen record for Degenerative Disease of Nervous System, Unspecified">Degenerative Disease of Nervous System, Unspecified</a></span><ul><li><span class="TLline"><a href="/medgen/38785" ref="tree=MeSH" title="MedGen record for Motor neuron disease">Motor neuron disease</a></span><ul><li><span class="matched_ds">Spinal muscular atrophy</span><ul><li><span class="TLline"><a href="/medgen/870465" ref="tree=MeSH" title="MedGen record for Acute infantile spinal muscular atrophy">Acute infantile spinal muscular atrophy</a></span></li><li><span class="TLline"><a href="/medgen/333282" ref="tree=MeSH" title="MedGen record for Kennedy disease">Kennedy disease</a></span></li><li><span class="TLline"><a href="/medgen/101816" ref="tree=MeSH" title="MedGen record for Kugelberg-Welander disease">Kugelberg-Welander disease</a></span></li><li><span class="TLline"><a href="/medgen/906831" ref="tree=MeSH" title="MedGen record for Progressive spinal muscular atrophy">Progressive spinal muscular atrophy</a></span></li><li><span class="TLline"><a href="/medgen/21913" ref="tree=MeSH" title="MedGen record for Proximal Hereditary Motor Neuropathy Type I">Proximal Hereditary Motor Neuropathy Type I</a></span></li><li><span class="TLline"><a href="/medgen/870510" ref="tree=MeSH" title="MedGen record for Proximal spinal muscular atrophy">Proximal spinal muscular atrophy</a></span><ul><li><span class="TLline"><a href="/medgen/95975" ref="tree=MeSH" title="MedGen record for Spinal muscular atrophy, type II">Spinal muscular atrophy, type II</a></span></li><li><span class="TLline"><a href="/medgen/325364" ref="tree=MeSH" title="MedGen record for Spinal muscular atrophy, type IV">Spinal muscular atrophy, type IV</a></span></li><li><span class="TLline"><a href="/medgen/1845578" ref="tree=MeSH" title="MedGen record for Werdnig-Hoffmann disease">Werdnig-Hoffmann disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/148615" ref="tree=MeSH" title="MedGen record for Spinal Muscular Atrophy of Childhood">Spinal Muscular Atrophy of Childhood</a></span></li><li><span class="TLline"><a href="/medgen/355801" ref="tree=MeSH" title="MedGen record for Spinal muscular atrophy, segmental">Spinal muscular atrophy, segmental</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="divPopper rprt" id="rdis_101816"><div><strong>Kugelberg-Welander disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>101816</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0152109</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The onset of weakness ranges from before birth to adulthood. The weakness is symmetric, proximal greater than distal, and progressive. Before the genetic basis of SMA was understood, it was classified into clinical subtypes based on maximum motor function achieved; however, it is now apparent that the phenotype of SMN1-associated SMA spans a continuum without clear delineation of subtypes. With supportive care only, poor weight gain with growth failure, restrictive lung disease, scoliosis, and joint contractures are common complications; however, newly available targeted treatment options are changing the natural history of the disease.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/101816">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_95975"><div><strong>Spinal muscular atrophy, type II</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>95975</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0393538</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The onset of weakness ranges from before birth to adulthood. The weakness is symmetric, proximal greater than distal, and progressive. Before the genetic basis of SMA was understood, it was classified into clinical subtypes based on maximum motor function achieved; however, it is now apparent that the phenotype of SMN1-associated SMA spans a continuum without clear delineation of subtypes. With supportive care only, poor weight gain with growth failure, restrictive lung disease, scoliosis, and joint contractures are common complications; however, newly available targeted treatment options are changing the natural history of the disease.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/95975">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_148283"><div><strong>Scapuloperoneal spinal muscular atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>148283</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0751335</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">The autosomal dominant TRPV4 disorders (previously considered to be clinically distinct phenotypes before their molecular basis was discovered) are now grouped into neuromuscular disorders and skeletal dysplasias; however, the overlap within each group is considerable. Affected individuals typically have either neuromuscular or skeletal manifestations alone, and in only rare instances an overlap syndrome has been reported. The three autosomal dominant neuromuscular disorders (mildest to most severe) are: Charcot-Marie-Tooth disease type 2C. Scapuloperoneal spinal muscular atrophy. Congenital distal spinal muscular atrophy. The autosomal dominant neuromuscular disorders are characterized by a congenital-onset, static, or later-onset progressive peripheral neuropathy with variable combinations of laryngeal dysfunction (i.e., vocal fold paresis), respiratory dysfunction, and joint contractures. The six autosomal dominant skeletal dysplasias (mildest to most severe) are: Familial digital arthropathy-brachydactyly. Autosomal dominant brachyolmia. Spondylometaphyseal dysplasia, Kozlowski type. Spondyloepiphyseal dysplasia, Maroteaux type. Parastremmatic dysplasia. Metatropic dysplasia. The skeletal dysplasia is characterized by brachydactyly (in all 6); the five that are more severe have short stature that varies from mild to severe with progressive spinal deformity and involvement of the long bones and pelvis. In the mildest of the autosomal dominant TRPV4 disorders life span is normal; in the most severe it is shortened. Bilateral progressive sensorineural hearing loss (SNHL) can occur with both autosomal dominant neuromuscular disorders and skeletal dysplasias.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/148283">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_371854"><div><strong>Spinal muscular atrophy-progressive myoclonic epilepsy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>371854</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1834569</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">The spectrum of ASAH1-related disorders ranges from Farber disease (FD) to spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME). Classic FD is characterized by onset in the first weeks of life of painful, progressive deformity of the major joints; palpable subcutaneous nodules of joints and mechanical pressure points; and a hoarse cry resulting from granulomas of the larynx and epiglottis. Life expectancy is usually less than two years. In the other less common types of FD, onset, severity, and primary manifestations vary. SMA-PME is characterized by early-childhood-onset progressive lower motor neuron disease manifest typically between ages three and seven years as proximal lower-extremity weakness, followed by progressive myoclonic and atonic seizures, tremulousness/tremor, and sensorineural hearing loss. Myoclonic epilepsy typically begins in late childhood after the onset of weakness and can include jerking of the upper limbs, action myoclonus, myoclonic status, and eyelid myoclonus. Other findings include generalized tremor, and cognitive decline. The time from disease onset to death from respiratory complications is usually five to 15 years.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/371854">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_325364"><div><strong>Spinal muscular atrophy, type IV</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>325364</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1838230</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The onset of weakness ranges from before birth to adulthood. The weakness is symmetric, proximal greater than distal, and progressive. Before the genetic basis of SMA was understood, it was classified into clinical subtypes based on maximum motor function achieved; however, it is now apparent that the phenotype of SMN1-associated SMA spans a continuum without clear delineation of subtypes. With supportive care only, poor weight gain with growth failure, restrictive lung disease, scoliosis, and joint contractures are common complications; however, newly available targeted treatment options are changing the natural history of the disease.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/325364">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_373984"><div><strong>Neuronopathy, distal hereditary motor, autosomal dominant 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373984</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1838492</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">The autosomal dominant TRPV4 disorders (previously considered to be clinically distinct phenotypes before their molecular basis was discovered) are now grouped into neuromuscular disorders and skeletal dysplasias; however, the overlap within each group is considerable. Affected individuals typically have either neuromuscular or skeletal manifestations alone, and in only rare instances an overlap syndrome has been reported. The three autosomal dominant neuromuscular disorders (mildest to most severe) are: Charcot-Marie-Tooth disease type 2C. Scapuloperoneal spinal muscular atrophy. Congenital distal spinal muscular atrophy. The autosomal dominant neuromuscular disorders are characterized by a congenital-onset, static, or later-onset progressive peripheral neuropathy with variable combinations of laryngeal dysfunction (i.e., vocal fold paresis), respiratory dysfunction, and joint contractures. The six autosomal dominant skeletal dysplasias (mildest to most severe) are: Familial digital arthropathy-brachydactyly. Autosomal dominant brachyolmia. Spondylometaphyseal dysplasia, Kozlowski type. Spondyloepiphyseal dysplasia, Maroteaux type. Parastremmatic dysplasia. Metatropic dysplasia. The skeletal dysplasia is characterized by brachydactyly (in all 6); the five that are more severe have short stature that varies from mild to severe with progressive spinal deformity and involvement of the long bones and pelvis. In the mildest of the autosomal dominant TRPV4 disorders life span is normal; in the most severe it is shortened. Bilateral progressive sensorineural hearing loss (SNHL) can occur with both autosomal dominant neuromuscular disorders and skeletal dysplasias.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/373984">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_335969"><div><strong>Pontocerebellar hypoplasia type 1A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335969</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1843504</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Pontocerebellar hypoplasia (PCH) refers to a group of severe neurodegenerative disorders affecting growth and function of the brainstem and cerebellum, resulting in little or no development. Different types were classified based on the clinical picture and the spectrum of pathologic changes. PCH type 1 is characterized by central and peripheral motor dysfunction associated with anterior horn cell degeneration resembling infantile spinal muscular atrophy (SMA; see SMA1, 253300); death usually occurs early. Genetic Heterogeneity of Pontocerebellar Hypoplasia Also see PCH1B (614678), caused by mutation in the EXOSC3 gene (606489); PCH1C (616081), caused by mutation in the EXOSC8 gene (606019); PCH1D (618065), caused by mutation in the EXOSC9 gene (606180); PCH1E (619303), caused by mutation in the SLC25A46 gene (610826); PCH1F (619304), caused by mutation in the EXOSC1 gene (606493); PCH2A (277470), caused by mutation in the TSEN54 gene (608755); PCH2B (612389), caused by mutation in the TSEN2 gene (608753); PCH2C (612390), caused by mutation in the TSEN34 gene (608754); PCH2D (613811), caused by mutation in the SEPSECS gene (613009); PCH3 (608027), caused by mutation in the PCLO gene (604918); PCH4 (225753), caused by mutation in the TSEN54 gene; PCH5 (610204), caused by mutation in the TSEN54 gene; PCH6 (611523), caused by mutation in the RARS2 gene (611524); PCH7 (614969), caused by mutation in the TOE1 gene (613931); PCH8 (614961), caused by mutation in the CHMP1A gene (164010); PCH9 (615809), caused by mutation in the AMPD2 gene (102771); PCH10 (615803), caused by mutation in the CLP1 gene (608757); PCH11 (617695), caused by mutation in the TBC1D23 gene (617687); PCH12 (618266), caused by mutation in the COASY gene (609855); PCH13 (618606), caused by mutation in the VPS51 gene (615738); PCH14 (619301), caused by mutation in the PPIL1 gene (601301); PCH15 (619302), caused by mutation in the CDC40 gene (605585); PCH16 (619527), caused by mutation in the MINPP1 gene (605391); and PCH17 (619909), caused by mutation in the PRDM13 gene (616741) on chromosome 6q16.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/335969">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_337123"><div><strong>Infantile-onset X-linked spinal muscular atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337123</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1844934</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">X-linked infantile spinal muscular atrophy (XL-SMA) is characterized by congenital hypotonia, areflexia, and evidence of degeneration and loss of anterior horn cells (i.e., lower motor neurons) in the spinal cord and brain stem. Often congenital contractures and/or fractures are present. Intellect is normal. Life span is significantly shortened because of progressive ventilatory insufficiency resulting from chest muscle involvement.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/337123">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_335168"><div><strong>X-linked distal spinal muscular atrophy type 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335168</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1845359</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A rare distal hereditary motor neuropathy with characteristics of slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/335168">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_337659"><div><strong>Neuronopathy, distal hereditary motor, autosomal recessive 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337659</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1846823</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Autosomal recessive distal hereditary motor neuronopathy-3 (HMNR3), also known as distal spinal muscular atrophy (DSMA) and distal hereditary motor neuronopathy (dHMN or HMN), is characterized by distal muscle weakness and wasting without significant sensory involvement. For a discussion of genetic heterogeneity of autosomal recessive HMN, see HMNR1 (604320). Harding (1993) classified autosomal recessive distal hereditary motor neuronopathy as dHMN IV (HMN4) and dHMN III (HMN3). Both have juvenile onset and differ only by less severe involvement in HMN3. However, Viollet et al. (2004) reported an extended Lebanese kindred in which both HMN III and HMN IV occurred, suggesting that the same gene was involved in both phenotypes (see Irobi et al., 2006).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/337659">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_376517"><div><strong>Spinal muscular atrophy, Ryukyuan type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376517</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1849102</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/376517">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_376518"><div><strong>Spinal muscular atrophy with intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376518</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1849109</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/376518">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_344189"><div><strong>Autosomal recessive distal spinal muscular atrophy 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344189</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1854023</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Autosomal recessive distal hereditary motor neuronopathy-2 (HMNR2) is a neuromuscular disorder characterized by onset of distal muscle weakness and wasting affecting the lower and upper limbs in the first decade; there is no sensory involvement (summary by Li et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive HMN, see HMNR1 (604320).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/344189">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_340120"><div><strong>Adult-onset proximal spinal muscular atrophy, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340120</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1854058</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Spinal muscular atrophy is characterized by degeneration of the anterior horn cells in the spinal cord, leading to symmetric muscle weakness and wasting. See also autosomal recessive adult-onset proximal spinal muscular atrophy (SMA4; 271150), caused by defect in the SMN1 gene (600354), and autosomal dominant childhood-onset proximal SMA (158600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340120">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_388083"><div><strong>Autosomal recessive distal spinal muscular atrophy 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>388083</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1858517</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive distal hereditary motor neuronopathy-1 (HMNR1) is characterized by distal and proximal muscle weakness and diaphragmatic palsy that leads to respiratory distress. Without intervention, most infants with the severe form of the disease die before 2 years of age. Affected individuals present in infancy with inspiratory stridor, weak cry, recurrent bronchopneumonia, and swallowing difficulties. The disorder is caused by distal and progressive motor neuronopathy resulting in muscle weakness (summary by Perego et al., 2020). Genetic Heterogeneity of Autosomal Recessive Distal Hereditary Motor Neuronopathy See also HMNR2 (605726), caused by mutation in the SIGMAR1 gene (601978); HMNR3 (607088) (encompassing Harding HMN types III and IV), which maps to chromosome 11q13; HMNR4 (611067), caused by mutation in the PLEKHG5 gene (611101); HMNR5 (614881), caused by mutation in the DNAJB2 gene (604139); HMNR6 (620011), caused by mutation in the REEP1 gene (609139); HMNR7 (619216), caused by mutation in the VWA1 gene (611901); HMNR8 (618912), caused by mutation in the SORD gene (182500); HMNR9 (620402), caused by mutation in the COQ7 gene (601683); HMNR10 (620542), caused by mutation in the VRK1 gene (602168); and HMNR11 (620854), caused by mutation in the RTN2 gene (603183).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/388083">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_357136"><div><strong>Spinal muscular atrophy, facioscapulohumeral type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>357136</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1866783</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/357136">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_369682"><div><strong>Neuronopathy, distal hereditary motor, autosomal recessive 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>369682</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1970211</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">A rare genetic neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported. There is evidence the disease is caused by homozygous mutation in the gene encoding pleckstrin homology domain-containing protein, family G member 5 (PLEKHG5) on chromosome 1p36.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/369682">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_767312"><div><strong>Lower motor neuron syndrome with late-adult onset</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767312</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3554398</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">CHCHD10-related disorders are characterized by a spectrum of adult-onset neurologic phenotypes that can include: Mitochondrial myopathy (may also be early onset): weakness, amyotrophy, exercise intolerance. Amyotrophic lateral sclerosis (ALS): progressive degeneration of upper motor neurons and lower motor neurons. Frontotemporal dementia (FTD): slowly progressive behavioral changes, language disturbances, cognitive decline, extrapyramidal signs. Late-onset spinal motor neuronopathy (SMA, Jokela type): weakness, cramps, and/or fasciculations; areflexia. Axonal Charcot-Marie-Tooth neuropathy: slowly progressive lower-leg muscle weakness and atrophy, small hand muscle weakness, loss of tendon reflexes, sensory abnormalities. Cerebellar ataxia: gait ataxia, kinetic ataxia (progressive loss of coordination of lower- and upper-limb movements), dysarthria/dysphagia, nystagmus, cerebellar oculomotor disorder. Because of the recent discovery of CHCHD10-related disorders and the limited number of affected individuals reported to date, the natural history of these disorders (except for SMAJ caused by the p.Gly66Val pathogenic variant) is largely unknown.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/767312">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_854832"><div><strong>Neuronopathy, distal hereditary motor, type 2D</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854832</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3888271</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Autosomal dominant distal hereditary motor neuronopathy-6 (HMND6) is a neurologic disorder characterized by onset of slowly progressive distal lower limb weakness and atrophy between the second and fourth decades of life. Weakness usually begins in the calf muscles and later involves more proximal muscles. The severity is variable, and some patients have difficulty walking or running. Most also have upper limb involvement, particularly of the triceps and intrinsic hand muscles. Some patients may lose independent ambulation later in the disease course. Sensory impairment is typically not present, and cognition and bulbar function are normal (summary by Sumner et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant distal HMN (dHMN), see HMND1 (182960).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854832">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_863597"><div><strong>Pontocerebellar hypoplasia, type 1C</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863597</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4015160</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Pontocerebellar hypoplasia type 1C is a severe autosomal recessive neurodegenerative disorder characterized by severe muscle weakness and failure to thrive apparent in the first months of life. Affected infants showed delayed psychomotor development, often with visual and hearing impairment, and may die of respiratory failure. Brain imaging typically shows cerebellar hypoplasia, hypoplasia of the corpus callosum, and immature myelination (summary by Boczonadi et al., 2014). For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (607596).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863597">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_907910"><div><strong>Spinal muscular atrophy with congenital bone fractures 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>907910</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4225176</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spinal muscular atrophy with congenital bone fractures is an autosomal recessive severe neuromuscular disorder characterized by onset of severe hypotonia with fetal hypokinesia in utero. This results in congenital contractures, consistent with arthrogryposis multiplex congenita, and increased incidence of prenatal fracture of the long bones. Affected infants have difficulty breathing and feeding and often die in the first days or months of life (summary by Knierim et al., 2016). For a discussion of genetic heterogeneity of spinal muscular atrophy with congenital bone fractures, see SMABF1 (616866).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/907910">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_896011"><div><strong>Spinal muscular atrophy with congenital bone fractures 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>896011</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4225177</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spinal muscular atrophy with congenital bone fractures is an autosomal recessive severe neuromuscular disorder characterized by onset of severe hypotonia with fetal hypokinesia in utero. This results in congenital contractures, consistent with arthrogryposis multiplex congenita, and increased incidence of prenatal fracture of the long bones. Affected infants have difficulty breathing and feeding and often die in the first days or months of life (summary by Knierim et al., 2016). Genetic Heterogeneity of Spinal Muscular Atrophy With Congenital Bone Fractures See also SMABF2 (616867), caused by mutation in the ASCC1 gene (614215) on chromosome 10q22.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/896011">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934634"><div><strong>Encephalopathy, progressive, with amyotrophy and optic atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934634</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4310667</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Progressive encephalopathy with amyotrophy and optic atrophy (PEAMO) is a severe autosomal recessive neurodegenerative disorder characterized by delayed development with hypotonia apparent in infancy and subsequent motor regression. Most affected individuals are unable to or lose the ability to sit and show distal amyotrophy and weakness of all 4 limbs. The patients are cognitively impaired and unable to speak or have severe dysarthria. Additional features include optic atrophy, thin corpus callosum, and cerebellar atrophy (Sferra et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934634">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1669929"><div><strong>Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1669929</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4747715</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">SMALED2A is an autosomal dominant form of spinal muscular atrophy characterized by early childhood onset of muscle weakness and atrophy predominantly affecting the proximal and distal muscles of the lower extremity, although some patients may show upper extremity involvement. The disorder results in delayed walking, waddling gait, difficulty walking, and loss of distal reflexes. Some patients may have foot deformities or hyperlordosis, and some show mild upper motor signs, such as spasticity. Sensation, bulbar function, and cognitive function are preserved. The disorder shows very slow progression throughout life (summary by Oates et al., 2013). For discussion of genetic heterogeneity of lower extremity-predominant spinal muscular atrophy, see SMALED1 (158600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1669929">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1667915"><div><strong>Neuronopathy, distal hereditary motor, autosomal recessive 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1667915</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4749918</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">HMNR5 is an autosomal recessive neurologic disorder characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes due to impaired function of motor nerves. Sensation and cognition are not impaired (summary by Blumen et al., 2012). For a discussion of genetic heterogeneity of autosomal recessive HMN, see HMNR1 (604320).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1667915">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_1830501"><div><strong>Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1830501</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5780022</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">DYNC1H1-related disorders are primarily characterized by an axonal neuropathy with a wide phenotypic spectrum ranging from a neuromuscular-only phenotype (DYNC1H1-related neuromuscular disorder, or DYNC1H1-NMD) to phenotypes involving both the central nervous system and peripheral nervous system referred to collectively as DYNC1H1-related neurodevelopmental disorder (DYNC1H1-NDD). DYNC1H1-NMD manifestations are limited to the peripheral nervous system and characterized predominantly by motor neuropathy initially most pronounced in the lower limbs; muscle weakness and atrophy variably associated with foot deformities, contractures, and other skeletal involvement; and/or delayed motor milestones. DYNC1H1-NDD manifestations include motor axonal neuropathy and often global developmental delay / intellectual disability, epilepsy, neurobehavioral/psychiatric manifestations, and movement disorders with or without malformations of cortical development and/or microcephaly. In an individual with more significant central nervous system involvement, the motor axonal neuropathy may not be evident clinically and, thus, is only detected on further evaluation such as electrophysiologic testing.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1830501">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_1845578"><div><strong>Werdnig-Hoffmann disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1845578</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5848259</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The onset of weakness ranges from before birth to adulthood. The weakness is symmetric, proximal greater than distal, and progressive. Before the genetic basis of SMA was understood, it was classified into clinical subtypes based on maximum motor function achieved; however, it is now apparent that the phenotype of SMN1-associated SMA spans a continuum without clear delineation of subtypes. With supportive care only, poor weight gain with growth failure, restrictive lung disease, scoliosis, and joint contractures are common complications; however, newly available targeted treatment options are changing the natural history of the disease.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/1845578">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340120" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Adult-onset proximal spinal muscular atrophy, autosomal dominant</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1669929" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1830501" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_388083" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive distal spinal muscular atrophy 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_344189" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive distal spinal muscular atrophy 2</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (27)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934634" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Encephalopathy, progressive, with amyotrophy and optic atrophy</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_337123" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Infantile-onset X-linked spinal muscular atrophy</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_101816" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kugelberg-Welander disease</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767312" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lower motor neuron syndrome with late-adult onset</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_373984" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuronopathy, distal hereditary motor, autosomal dominant 8</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_337659" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuronopathy, distal hereditary motor, autosomal recessive 3</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_369682" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuronopathy, distal hereditary motor, autosomal recessive 4</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1667915" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuronopathy, distal hereditary motor, autosomal recessive 5</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_854832" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuronopathy, distal hereditary motor, type 2D</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_335969" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pontocerebellar hypoplasia type 1A</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863597" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pontocerebellar hypoplasia, type 1C</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_148283" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Scapuloperoneal spinal muscular atrophy</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_896011" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinal muscular atrophy with congenital bone fractures 1</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_907910" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinal muscular atrophy with congenital bone fractures 2</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376518" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinal muscular atrophy with intellectual disability</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_357136" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinal muscular atrophy, facioscapulohumeral type</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376517" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinal muscular atrophy, Ryukyuan type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_95975" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinal muscular atrophy, type II</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_325364" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinal muscular atrophy, type IV</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_371854" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinal muscular atrophy-progressive myoclonic epilepsy syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1845578" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Werdnig-Hoffmann disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_335168" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked distal spinal muscular atrophy type 3</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37569314">Spinal Muscular Atrophy: The Past, Present, and Future of Diagnosis and Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nishio H,
|
||
Niba ETE,
|
||
Saito T,
|
||
Okamoto K,
|
||
Takeshima Y,
|
||
Awano H</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2023 Jul 26;24(15)
|
||
doi: 10.3390/ijms241511939.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37569314" target="_blank">37569314</a><a href="/pmc/articles/PMC10418635" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29290580">Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mercuri E,
|
||
Finkel RS,
|
||
Muntoni F,
|
||
Wirth B,
|
||
Montes J,
|
||
Main M,
|
||
Mazzone ES,
|
||
Vitale M,
|
||
Snyder B,
|
||
Quijano-Roy S,
|
||
Bertini E,
|
||
Davis RH,
|
||
Meyer OH,
|
||
Simonds AK,
|
||
Schroth MK,
|
||
Graham RJ,
|
||
Kirschner J,
|
||
Iannaccone ST,
|
||
Crawford TO,
|
||
Woods S,
|
||
Qian Y,
|
||
Sejersen T;
|
||
SMA Care Group</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2018 Feb;28(2):103-115.
|
||
Epub 2017 Nov 23
|
||
doi: 10.1016/j.nmd.2017.11.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29290580" target="_blank">29290580</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29196274">Neuromuscular diseases: Diagnosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mary P,
|
||
Servais L,
|
||
Vialle R</span><br />
|
||
<span class="medgenPMjournal">Orthop Traumatol Surg Res</span>
|
||
2018 Feb;104(1S):S89-S95.
|
||
Epub 2017 Nov 28
|
||
doi: 10.1016/j.otsr.2017.04.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29196274" target="_blank">29196274</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22spinal%20muscular%20atrophy%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (529)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3><h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/SMA-ACT-Sheet.pdf" target="_blank">American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Exon 7 Deletion (Pathogenic Variant) in Survival Motor Neuron Gene (SMN1), Spinal Muscular Atrophy (SMA), 2020</a></h3>
|
||
<h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/Spinal-Muscular-Atrophy-Carrier-Screening-ACT.pdf" target="_blank">ACMG Carrier Screening ACT Sheet Spinal Muscular Atrophy (SMA)</a></h3>
|
||
</div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35284988">Risdiplam: A Review in Spinal Muscular Atrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paik J</span><br />
|
||
<span class="medgenPMjournal">CNS Drugs</span>
|
||
2022 Apr;36(4):401-410.
|
||
Epub 2022 Mar 13
|
||
doi: 10.1007/s40263-022-00910-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35284988" target="_blank">35284988</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28884620">Nusinersen for the treatment of spinal muscular atrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chiriboga CA</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Neurother</span>
|
||
2017 Oct;17(10):955-962.
|
||
Epub 2017 Sep 8
|
||
doi: 10.1080/14737175.2017.1364159.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28884620" target="_blank">28884620</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27701745">Revised upper limb module for spinal muscular atrophy: Development of a new module.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mazzone ES,
|
||
Mayhew A,
|
||
Montes J,
|
||
Ramsey D,
|
||
Fanelli L,
|
||
Young SD,
|
||
Salazar R,
|
||
De Sanctis R,
|
||
Pasternak A,
|
||
Glanzman A,
|
||
Coratti G,
|
||
Civitello M,
|
||
Forcina N,
|
||
Gee R,
|
||
Duong T,
|
||
Pane M,
|
||
Scoto M,
|
||
Pera MC,
|
||
Messina S,
|
||
Tennekoon G,
|
||
Day JW,
|
||
Darras BT,
|
||
De Vivo DC,
|
||
Finkel R,
|
||
Muntoni F,
|
||
Mercuri E</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2017 Jun;55(6):869-874.
|
||
Epub 2017 Feb 6
|
||
doi: 10.1002/mus.25430.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27701745" target="_blank">27701745</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25346245">Spinal muscular atrophy: diagnosis and management in a new therapeutic era.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arnold WD,
|
||
Kassar D,
|
||
Kissel JT</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2015 Feb;51(2):157-67.
|
||
Epub 2014 Dec 16
|
||
doi: 10.1002/mus.24497.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25346245" target="_blank">25346245</a><a href="/pmc/articles/PMC4293319" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22047105">Spinal muscular atrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">D'Amico A,
|
||
Mercuri E,
|
||
Tiziano FD,
|
||
Bertini E</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2011 Nov 2;6:71.
|
||
doi: 10.1186/1750-1172-6-71.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22047105" target="_blank">22047105</a><a href="/pmc/articles/PMC3231874" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spinal%20muscular%20atrophy%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1832)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37851043">Spinal Muscular Atrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oskoui M,
|
||
Servais L</span><br />
|
||
<span class="medgenPMjournal">Continuum (Minneap Minn)</span>
|
||
2023 Oct 1;29(5):1564-1584.
|
||
doi: 10.1212/CON.0000000000001338.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37851043" target="_blank">37851043</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37569314">Spinal Muscular Atrophy: The Past, Present, and Future of Diagnosis and Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nishio H,
|
||
Niba ETE,
|
||
Saito T,
|
||
Okamoto K,
|
||
Takeshima Y,
|
||
Awano H</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2023 Jul 26;24(15)
|
||
doi: 10.3390/ijms241511939.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37569314" target="_blank">37569314</a><a href="/pmc/articles/PMC10418635" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35927425">Spinal muscular atrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mercuri E,
|
||
Sumner CJ,
|
||
Muntoni F,
|
||
Darras BT,
|
||
Finkel RS</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2022 Aug 4;8(1):52.
|
||
doi: 10.1038/s41572-022-00380-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35927425" target="_blank">35927425</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35284988">Risdiplam: A Review in Spinal Muscular Atrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paik J</span><br />
|
||
<span class="medgenPMjournal">CNS Drugs</span>
|
||
2022 Apr;36(4):401-410.
|
||
Epub 2022 Mar 13
|
||
doi: 10.1007/s40263-022-00910-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35284988" target="_blank">35284988</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33892848">Spinal Muscular Atrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nicolau S,
|
||
Waldrop MA,
|
||
Connolly AM,
|
||
Mendell JR</span><br />
|
||
<span class="medgenPMjournal">Semin Pediatr Neurol</span>
|
||
2021 Apr;37:100878.
|
||
Epub 2021 Feb 11
|
||
doi: 10.1016/j.spen.2021.100878.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33892848" target="_blank">33892848</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spinal%20muscular%20atrophy%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2103)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36346674">Antibody-oligonucleotide conjugate achieves CNS delivery in animal models for spinal muscular atrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hammond SM,
|
||
Abendroth F,
|
||
Goli L,
|
||
Stoodley J,
|
||
Burrell M,
|
||
Thom G,
|
||
Gurrell I,
|
||
Ahlskog N,
|
||
Gait MJ,
|
||
Wood MJ,
|
||
Webster CI</span><br />
|
||
<span class="medgenPMjournal">JCI Insight</span>
|
||
2022 Dec 22;7(24)
|
||
doi: 10.1172/jci.insight.154142.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36346674" target="_blank">36346674</a><a href="/pmc/articles/PMC7614086" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36329412">Advances and limitations for the treatment of spinal muscular atrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Day JW,
|
||
Howell K,
|
||
Place A,
|
||
Long K,
|
||
Rossello J,
|
||
Kertesz N,
|
||
Nomikos G</span><br />
|
||
<span class="medgenPMjournal">BMC Pediatr</span>
|
||
2022 Nov 3;22(1):632.
|
||
doi: 10.1186/s12887-022-03671-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36329412" target="_blank">36329412</a><a href="/pmc/articles/PMC9632131" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35284988">Risdiplam: A Review in Spinal Muscular Atrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paik J</span><br />
|
||
<span class="medgenPMjournal">CNS Drugs</span>
|
||
2022 Apr;36(4):401-410.
|
||
Epub 2022 Mar 13
|
||
doi: 10.1007/s40263-022-00910-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35284988" target="_blank">35284988</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25346245">Spinal muscular atrophy: diagnosis and management in a new therapeutic era.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arnold WD,
|
||
Kassar D,
|
||
Kissel JT</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2015 Feb;51(2):157-67.
|
||
Epub 2014 Dec 16
|
||
doi: 10.1002/mus.24497.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25346245" target="_blank">25346245</a><a href="/pmc/articles/PMC4293319" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18572081">Spinal muscular atrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lunn MR,
|
||
Wang CH</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2008 Jun 21;371(9630):2120-33.
|
||
doi: 10.1016/S0140-6736(08)60921-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18572081" target="_blank">18572081</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spinal%20muscular%20atrophy%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1130)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37851043">Spinal Muscular Atrophy.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Oskoui M,
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Servais L</span><br />
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<span class="medgenPMjournal">Continuum (Minneap Minn)</span>
|
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2023 Oct 1;29(5):1564-1584.
|
||
doi: 10.1212/CON.0000000000001338.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37851043" target="_blank">37851043</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35960489">Onasemnogene Abeparvovec: A Review in Spinal Muscular Atrophy.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Blair HA</span><br />
|
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<span class="medgenPMjournal">CNS Drugs</span>
|
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2022 Sep;36(9):995-1005.
|
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Epub 2022 Aug 12
|
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doi: 10.1007/s40263-022-00941-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35960489" target="_blank">35960489</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33003005">Spinal Muscular Atrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nance JR</span><br />
|
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<span class="medgenPMjournal">Continuum (Minneap Minn)</span>
|
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2020 Oct;26(5):1348-1368.
|
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doi: 10.1212/CON.0000000000000918.
|
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<span class="bold">PMID: </span><a href="/pubmed/33003005" target="_blank">33003005</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/31707373">Advances in Treatment of Spinal Muscular Atrophy - New Phenotypes, New Challenges, New Implications for Care.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Schorling DC,
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Pechmann A,
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Kirschner J</span><br />
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<span class="medgenPMjournal">J Neuromuscul Dis</span>
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2020;7(1):1-13.
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doi: 10.3233/JND-190424.
|
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<span class="bold">PMID: </span><a href="/pubmed/31707373" target="_blank">31707373</a><a href="/pmc/articles/PMC7029319" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28676062">Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Verhaart IEC,
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Robertson A,
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Wilson IJ,
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Aartsma-Rus A,
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Cameron S,
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Jones CC,
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Cook SF,
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Lochmüller H</span><br />
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
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2017 Jul 4;12(1):124.
|
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doi: 10.1186/s13023-017-0671-8.
|
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<span class="bold">PMID: </span><a href="/pubmed/28676062" target="_blank">28676062</a><a href="/pmc/articles/PMC5496354" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spinal%20muscular%20atrophy%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1005)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35748255">Physical Therapy and Nusinersen Impact on Spinal Muscular Atrophy Rehabilitative Outcome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mirea A,
|
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Leanca MC,
|
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Onose G,
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Sporea C,
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Padure L,
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Shelby ES,
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Dima V,
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Daia C</span><br />
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<span class="medgenPMjournal">Front Biosci (Landmark Ed)</span>
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2022 Jun 6;27(6):179.
|
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doi: 10.31083/j.fbl2706179.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35748255" target="_blank">35748255</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33743238">Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Day JW,
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Finkel RS,
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Chiriboga CA,
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Connolly AM,
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Crawford TO,
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Darras BT,
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Iannaccone ST,
|
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Kuntz NL,
|
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Peña LDM,
|
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Shieh PB,
|
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Smith EC,
|
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Kwon JM,
|
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Zaidman CM,
|
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Schultz M,
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Feltner DE,
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Tauscher-Wisniewski S,
|
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Ouyang H,
|
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Chand DH,
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Sproule DM,
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Macek TA,
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Mendell JR</span><br />
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<span class="medgenPMjournal">Lancet Neurol</span>
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||
2021 Apr;20(4):284-293.
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Epub 2021 Mar 17
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||
doi: 10.1016/S1474-4422(21)00001-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33743238" target="_blank">33743238</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29091557">Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mendell JR,
|
||
Al-Zaidy S,
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Shell R,
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Arnold WD,
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Rodino-Klapac LR,
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Prior TW,
|
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Lowes L,
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Alfano L,
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Berry K,
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Church K,
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Kissel JT,
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Nagendran S,
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L'Italien J,
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Sproule DM,
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Wells C,
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Cardenas JA,
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Heitzer MD,
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Kaspar A,
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Corcoran S,
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Braun L,
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Likhite S,
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Miranda C,
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Meyer K,
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Foust KD,
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Burghes AHM,
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Kaspar BK</span><br />
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<span class="medgenPMjournal">N Engl J Med</span>
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2017 Nov 2;377(18):1713-1722.
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doi: 10.1056/NEJMoa1706198.
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||
<span class="bold">PMID: </span><a href="/pubmed/29091557" target="_blank">29091557</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28884620">Nusinersen for the treatment of spinal muscular atrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chiriboga CA</span><br />
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||
<span class="medgenPMjournal">Expert Rev Neurother</span>
|
||
2017 Oct;17(10):955-962.
|
||
Epub 2017 Sep 8
|
||
doi: 10.1080/14737175.2017.1364159.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28884620" target="_blank">28884620</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25839387">Degenerative Cervical Myelopathy: Epidemiology, Genetics, and Pathogenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nouri A,
|
||
Tetreault L,
|
||
Singh A,
|
||
Karadimas SK,
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||
Fehlings MG</span><br />
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||
<span class="medgenPMjournal">Spine (Phila Pa 1976)</span>
|
||
2015 Jun 15;40(12):E675-93.
|
||
doi: 10.1097/BRS.0000000000000913.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25839387" target="_blank">25839387</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spinal%20muscular%20atrophy%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1544)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/37574770">Efficacy of risdiplam in spinal muscular atrophy: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pascual-Morena C,
|
||
Martínez-Vizcaíno V,
|
||
Cavero-Redondo I,
|
||
Martínez-García I,
|
||
Moreno-Herráiz N,
|
||
Álvarez-Bueno C,
|
||
Saz-Lara A</span><br />
|
||
<span class="medgenPMjournal">Pharmacotherapy</span>
|
||
2024 Jan;44(1):97-105.
|
||
Epub 2023 Aug 21
|
||
doi: 10.1002/phar.2866.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37574770" target="_blank">37574770</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37510282">Spinal Muscular Atrophy Treatment in Patients Identified by Newborn Screening-A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aragon-Gawinska K,
|
||
Mouraux C,
|
||
Dangouloff T,
|
||
Servais L</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2023 Jun 29;14(7)
|
||
doi: 10.3390/genes14071377.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37510282" target="_blank">37510282</a><a href="/pmc/articles/PMC10379202" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35533607">Mid- and long-term (at least 12 months) follow-up of patients with spinal muscular atrophy (SMA) treated with nusinersen, onasemnogene abeparvovec, risdiplam or combination therapies: A systematic review of real-world study data.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Erdos J,
|
||
Wild C</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2022 Jul;39:1-10.
|
||
Epub 2022 Apr 30
|
||
doi: 10.1016/j.ejpn.2022.04.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35533607" target="_blank">35533607</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35040693">How does risdiplam compare with other treatments for Types 1-3 spinal muscular atrophy: a systematic literature review and indirect treatment comparison.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ribero VA,
|
||
Daigl M,
|
||
Martí Y,
|
||
Gorni K,
|
||
Evans R,
|
||
Scott DA,
|
||
Mahajan A,
|
||
Abrams KR,
|
||
Hawkins N</span><br />
|
||
<span class="medgenPMjournal">J Comp Eff Res</span>
|
||
2022 Apr;11(5):347-370.
|
||
Epub 2022 Jan 18
|
||
doi: 10.2217/cer-2021-0216.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35040693" target="_blank">35040693</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30821348">Physical exercise training for type 3 spinal muscular atrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bartels B,
|
||
Montes J,
|
||
van der Pol WL,
|
||
de Groot JF</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2019 Mar 1;3(3):CD012120.
|
||
doi: 10.1002/14651858.CD012120.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30821348" target="_blank">30821348</a><a href="/pmc/articles/PMC6396106" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spinal%20muscular%20atrophy%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (73)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet mgSection" id="ID_106">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0026847%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (64)</a></li>
|
||
<li><a href="/gtr/tests?term=C0026847%5bDISCUI%5d&filter=method%3A1%5F2" target="_blank">Enzyme assay (14)</a></li>
|
||
<li><a href="/gtr/tests?term=C0026847%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (10)</a></li>
|
||
<li><a href="/gtr/tests?term=C0026847%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0026847%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (39)</a></li>
|
||
<li><a href="/gtr/tests?term=C0026847%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (71)</a></li>
|
||
<li><a href="/gtr/tests?term=C0026847%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (32)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0026847%5bDISCUI%5d" target="_blank">See all (119)</a></total></li>
|
||
</ul></div>
|
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</div>
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<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Spinal%20muscular%20atrophy" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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</div>
|
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|
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22spinal%20muscular%20atrophy%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Spinal%20muscular%20atrophy%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://www.acmg.net/PDFLibrary/SMA-ACT-Sheet.pdf">ACMG ACT, 2020</a><div>American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Exon 7 Deletion (Pathogenic Variant) in Survival Motor Neuron Gene (SMN1), Spinal Muscular Atrophy (SMA), 2020</div></li><li><a target="_blank" href="https://www.acmg.net/PDFLibrary/Spinal-Muscular-Atrophy-Carrier-Screening-ACT.pdf">ACMG ACT, 2018</a><div>ACMG Carrier Screening ACT Sheet Spinal Muscular Atrophy (SMA)</div></li></ul></div>
|
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</div>
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<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=600354%20602595%20603519" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=6606[geneid]" target="_blank">View SMN1 variations in ClinVar</a></li><li><a href="/clinvar/?term=8487[geneid]" target="_blank">View GEMIN2 variations in ClinVar</a></li><li><a href="/clinvar/?term=10285[geneid]" target="_blank">View SMNDC1 variations in ClinVar</a></li><li><a href="/nuccore/194394216,209413713,290565744" target="_blank">RefSeqGene</a></li></ul></div>
|
||
</div>
|
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Spinal+muscular+atrophy/6729" target="_blank">Genetic Alliance</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Spinal%20muscular%20atrophy" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/7674/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a href="/pubmed/20301526" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
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|
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|
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<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
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<div class="tertiary">MedGen</div>
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<div class="tertiary">MedGen</div>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67d564b484f3725e59717f8e">Spinal Muscular Atrophy, X-Linked Infantile - GeneReviews®</a>
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