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<meta name="keywords" content="C0393538, chronic infantile spinal muscular atrophy, chronic spinal muscular atrophy, disease or syndrome, dubowitz disease, intermediate spinal muscular atrophy, late infantile spinal muscular atrophy, muscular atrophy, spinal, infantile chronic form, muscular atrophy, spinal, intermediate type, muscular atrophy, spinal, type ii, proximal spinal muscular atrophy type 2, sma 2, sma ii, sma type 2, sma type ii, sma-ii, sma2, smn1, spinal muscular atrophy type 2, spinal muscular atrophy type ii, spinal muscular atrophy, type 2, spinal muscular atrophy, type ii, spinal muscular atrophy-2, type ii spinal muscular atrophy, 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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<!--
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||
UID=95975
|
||
ConceptID=C0393538
|
||
-->
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<!--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, type II<span class="h1sub">(SMA2)</span></div></h1><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><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>MUSCULAR ATROPHY, SPINAL, INFANTILE CHRONIC FORM; MUSCULAR ATROPHY, SPINAL, INTERMEDIATE TYPE; SMA 2; SMA II; SMA2; Spinal muscular atrophy type 2</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>SMA2 (128212001); Late infantile spinal muscular atrophy (128212001); Spinal muscular atrophy, type II (128212001); Spinal muscular atrophy type II (128212001)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></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">Gene (location):<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="SMN1 - ID: 6606 - NCBI Gene" href="/gene/6606" class="medgenPMinfo">SMN1</a> (5q13.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0009673" target="_blank">MONDO:0009673</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/253550" target="_blank">253550</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=83418">ORPHA83418</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">
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||
<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>
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||
</div>
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||
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<div class="portlet mgSection" id="ID_117">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Spinal muscular atrophy refers to a group of autosomal recessive neuromuscular disorders characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetric muscle weakness and atrophy (summary by Wirth, 2000). <a target="_blank" href="http://www.omim.org/entry/253550">http://www.omim.org/entry/253550</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Spinal muscular atrophy type III (also called Kugelberg-Welander disease) typically causes muscle weakness after early childhood. Individuals with this condition can stand and walk unaided, but over time, walking and climbing stairs may become increasingly difficult. Many affected individuals require wheelchair assistance later in life. People with spinal muscular atrophy type III typically have a normal life expectancy.<br /><br />Spinal muscular atrophy type IV is rare and often begins in early adulthood. Affected individuals usually experience mild to moderate muscle weakness, tremors, and mild breathing problems. People with spinal muscular atrophy type IV have a normal life expectancy.<br /><br />Spinal muscular atrophy type II (also called Dubowitz disease) is characterized by muscle weakness that develops in children between ages 6 and 12 months. Children with this type can sit without support, although they may need help getting to a seated position. However, as the muscle weakness worsens later in childhood, affected individuals may need support to sit. Individuals with spinal muscular atrophy type II cannot stand or walk unaided. They often have involuntary trembling (tremors) in their fingers, a spine that curves side-to-side (scoliosis), and respiratory muscle weakness that can be life-threatening. The life span of individuals with spinal muscular atrophy type II varies, but many people with this condition live into their twenties or thirties.<br /><br />Spinal muscular atrophy type I (also called Werdnig-Hoffmann disease) is the most common form of the condition. It is a severe form of the disorder with muscle weakness evident at birth or within the first few months of life. Most affected children cannot control their head movements or sit unassisted. Children with this type may have swallowing problems that can lead to difficulty feeding and poor growth. They can also have breathing problems due to weakness of respiratory muscles and an abnormally bell-shaped chest that prevents the lungs from fully expanding. Most children with spinal muscular atrophy type I do not survive past early childhood due to respiratory failure.<br /><br />Spinal muscular atrophy type 0 is evident before birth and is the rarest and most severe form of the condition. Affected infants move less in the womb, and as a result they are often born with joint deformities (contractures). They have extremely weak muscle tone (hypotonia) at birth. Their respiratory muscles are very weak and they often do not survive past infancy due to respiratory failure. Some infants with spinal muscular atrophy type 0 also have heart defects that are present from birth (congenital).<br /><br />Spinal muscular atrophy is a genetic disorder characterized by weakness and wasting (atrophy) in muscles used for movement (skeletal muscles). It is caused by a loss of specialized nerve cells, called motor neurons that control muscle movement. The weakness tends to be more severe in the muscles that are close to the center of the body (proximal) compared to muscles away from the body's center (distal). The muscle weakness usually worsens with age. There are many types of spinal muscular atrophy that are caused by changes in the same genes. The types differ in age of onset and severity of muscle weakness; however, there is overlap between the types. Other forms of spinal muscular atrophy and related motor neuron diseases, such as spinal muscular atrophy with progressive myoclonic epilepsy, spinal muscular atrophy with lower extremity predominance, X-linked infantile spinal muscular atrophy, and spinal muscular atrophy with respiratory distress type 1 are caused by mutations in other genes. <a target="_blank" href="https://medlineplus.gov/genetics/condition/spinal-muscular-atrophy">https://medlineplus.gov/genetics/condition/spinal-muscular-atrophy</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
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<div class="divPopper rprt" id="clin_68689"><div><strong>Hand tremor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68689</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.">C0239842</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">An unintentional, oscillating to-and-fro muscle movement affecting the hand.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/68689">Feature record</a> | <a href="/medgen?term=%22Hand%20tremor%22%5BClinical%20Features%5D%20OR%2068689%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_375215"><div><strong>Degeneration of anterior horn cells</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375215</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.">C1843505</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/375215">Feature record</a> | <a href="/medgen?term=%22Degeneration%20of%20anterior%20horn%20cells%22%5BClinical%20Features%5D%20OR%20375215%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_7755"><div><strong>Spinal muscular atrophy</strong><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></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/7755">Feature record</a> | <a href="/medgen?term=%22Spinal%20muscular%20atrophy%22%5BClinical%20Features%5D%20OR%207755%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_57735"><div><strong>Muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57735</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.">C0151786</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Reduced strength of muscles.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/57735">Feature record</a> | <a href="/medgen?term=%22Muscle%20weakness%22%5BClinical%20Features%5D%20OR%2057735%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_99199"><div><strong>EMG abnormality</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99199</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.">C0476403</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Abnormal results of investigations using electromyography (EMG).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/99199">Feature record</a> | <a href="/medgen?term=%22EMG%20abnormality%22%5BClinical%20Features%5D%20OR%2099199%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_892680"><div><strong>Muscular atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892680</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.">C0541794</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
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<div class="spaceAbove">The presence of skeletal muscular atrophy (which is also known as amyotrophy).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/892680">Feature record</a> | <a href="/medgen?term=%22Muscular%20atrophy%22%5BClinical%20Features%5D%20OR%20892680%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_812812"><div><strong>Recurrent respiratory infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>812812</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.">C3806482</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/812812">Feature record</a> | <a href="/medgen?term=%22Recurrent%20respiratory%20infections%22%5BClinical%20Features%5D%20OR%20812812%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65987"><div><strong>Tongue fasciculations</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65987</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.">C0239548</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Fasciculations or fibrillation affecting the tongue muscle.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65987">Feature record</a> | <a href="/medgen?term=%22Tongue%20fasciculations%22%5BClinical%20Features%5D%20OR%2065987%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65987" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tongue fasciculations</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_99199" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">EMG abnormality</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57735" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscle weakness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892680" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7755" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinal muscular atrophy</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_375215" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Degeneration of anterior horn cells</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68689" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hand tremor</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_812812" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent respiratory infections</a></span></li></ul></li></ul></div></div>
|
||
</div>
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||
|
||
<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><li><a href="#tabORDO">Orphanet</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="TLclosed"><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"><a href="/medgen/7755" ref="tree=GTR&ncbi_uid=7755&link_uid=7755" title="View MedGen record for 'Spinal muscular atrophy'">Spinal muscular atrophy</a></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="matched_ds"><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">Spinal muscular atrophy, type II</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/78728" ref="tree=MeSH" title="MedGen record for Hereditary motor neuron disease">Hereditary motor neuron disease</a></span><ul><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="matched_ds">Spinal muscular atrophy, type II</span></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=11565&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Spinal muscular atrophy, type II</span> in Orphanet.</div></div></div>
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</div>
|
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|
||
<div class="portlet mgSection" id="ID_105">
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||
<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>
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||
<div class="nl"><a target="_blank" href="/pubmed/37739783">Early treatment of type II SMA slows rate of progression of scoliosis.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Coratti G,
|
||
Lenkowicz J,
|
||
Pera MC,
|
||
D'Amico A,
|
||
Bruno C,
|
||
Gullì C,
|
||
Brolatti N,
|
||
Pedemonte M,
|
||
Antonaci L,
|
||
Ricci M,
|
||
Capasso A,
|
||
Cicala G,
|
||
Cutrona C,
|
||
de Sanctis R,
|
||
Carnicella S,
|
||
Forcina N,
|
||
Cateruccia M,
|
||
Damasio MB,
|
||
Labianca L,
|
||
Manfroni F,
|
||
Leone A,
|
||
Bertini E,
|
||
Pane M,
|
||
Patarnello S,
|
||
Valentini V,
|
||
Mercuri E</span><br />
|
||
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
|
||
2024 Feb 14;95(3):235-240.
|
||
doi: 10.1136/jnnp-2023-332084.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37739783" target="_blank">37739783</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34099377">Age related treatment effect in type II Spinal Muscular Atrophy pediatric patients treated with nusinersen.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coratti G,
|
||
Pane M,
|
||
Lucibello S,
|
||
Pera MC,
|
||
Pasternak A,
|
||
Montes J,
|
||
Sansone VA,
|
||
Duong T,
|
||
Dunaway Young S,
|
||
Messina S,
|
||
D'Amico A,
|
||
Civitello M,
|
||
Glanzman AM,
|
||
Bruno C,
|
||
Salmin F,
|
||
Tacchetti P,
|
||
Carnicella S,
|
||
Sframeli M,
|
||
Antonaci L,
|
||
Frongia AL,
|
||
De Vivo DC,
|
||
Darras BT,
|
||
Day J,
|
||
Bertini E,
|
||
Muntoni F,
|
||
Finkel R,
|
||
Mercuri E;
|
||
iSMAC group</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2021 Jul;31(7):596-602.
|
||
Epub 2021 Apr 2
|
||
doi: 10.1016/j.nmd.2021.03.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34099377" target="_blank">34099377</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32623818">Anesthetic management of pediatric patients undergoing intrathecal nusinersen administration for treatment of spinal muscular atrophy: A single-center experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brollier LD,
|
||
Matuszczak M,
|
||
Marri T,
|
||
Carbajal JG,
|
||
Moorman AT,
|
||
Sorial EM,
|
||
Jain R</span><br />
|
||
<span class="medgenPMjournal">Paediatr Anaesth</span>
|
||
2021 Feb;31(2):160-166.
|
||
Epub 2020 Dec 19
|
||
doi: 10.1111/pan.13964.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32623818" target="_blank">32623818</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22spinal%20muscular%20atrophy%2C%20type%20ii%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 (3)</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>
|
||
<div class="nl"><a target="_blank" href="/pubmed/22510849">Clinical utility gene card for: proximal spinal muscular atrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rudnik-Schöneborn S,
|
||
Eggermann T,
|
||
Kress W,
|
||
Lemmink HH,
|
||
Cobben JM,
|
||
Zerres K</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2012 Jun;20(6)
|
||
Epub 2012 Apr 18
|
||
doi: 10.1038/ejhg.2012.62.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22510849" target="_blank">22510849</a><a href="/pmc/articles/PMC3355269" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=" title="PubMed search"></a></div><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/37709650">Profile of cognitive abilities in spinal muscular atrophy type II and III: what is the role of motor impairment?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Buchignani B,
|
||
Cicala G,
|
||
Moriconi F,
|
||
Ricci M,
|
||
Capasso A,
|
||
Coratti G,
|
||
Casiraghi J,
|
||
Albamonte E,
|
||
Cristofani P,
|
||
Cutrona C,
|
||
Pera MC,
|
||
Antonaci L,
|
||
Roncoroni C,
|
||
Chieffo D,
|
||
Sansone VA,
|
||
Battini R,
|
||
Pane M,
|
||
Mercuri E</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2023 Oct;33(10):711-717.
|
||
Epub 2023 Sep 9
|
||
doi: 10.1016/j.nmd.2023.08.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37709650" target="_blank">37709650</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34407566">Prolonged fasting-induced hyperketosis, hypoglycaemia and impaired fat oxidation in child and adult patients with spinal muscular atrophy type II.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ørngreen MC,
|
||
Andersen AG,
|
||
Eisum AS,
|
||
Hald EJ,
|
||
Raaschou-Pedersen DE,
|
||
Løkken N,
|
||
Høi-Hansen CE,
|
||
Vissing J,
|
||
Born AP,
|
||
van Hall G</span><br />
|
||
<span class="medgenPMjournal">Acta Paediatr</span>
|
||
2021 Dec;110(12):3367-3375.
|
||
Epub 2021 Aug 30
|
||
doi: 10.1111/apa.16074.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34407566" target="_blank">34407566</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31201046">Salbutamol tolerability and efficacy in patients with spinal muscular atrophy type II.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Frongia AL,
|
||
Natera-de Benito D,
|
||
Ortez C,
|
||
Alarcón M,
|
||
Borrás A,
|
||
Medina J,
|
||
Vigo M,
|
||
Padrós N,
|
||
Moya O,
|
||
Armas J,
|
||
Carrera-García L,
|
||
Expósito-Escudero J,
|
||
Cuadras D,
|
||
Bernal S,
|
||
Martorell L,
|
||
Colomer J,
|
||
Nascimento A</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2019 Jul;29(7):517-524.
|
||
Epub 2019 Apr 18
|
||
doi: 10.1016/j.nmd.2019.04.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31201046" target="_blank">31201046</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27807779">The effect of scoliosis surgery on pulmonary function in spinal muscular atrophy type II patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chou SH,
|
||
Lin GT,
|
||
Shen PC,
|
||
Lue YJ,
|
||
Lu CC,
|
||
Tien YC,
|
||
Lu YM</span><br />
|
||
<span class="medgenPMjournal">Eur Spine J</span>
|
||
2017 Jun;26(6):1721-1731.
|
||
Epub 2016 Nov 2
|
||
doi: 10.1007/s00586-016-4828-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27807779" target="_blank">27807779</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19933981">Dysphagia in spinal muscular atrophy type II: more than a bulbar problem?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van den Engel-Hoek L,
|
||
Erasmus CE,
|
||
van Bruggen HW,
|
||
de Swart BJ,
|
||
Sie LT,
|
||
Steenks MH,
|
||
de Groot IJ</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2009 Nov 24;73(21):1787-91.
|
||
doi: 10.1212/WNL.0b013e3181c34aa6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19933981" target="_blank">19933981</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spinal%20muscular%20atrophy%2C%20type%20II%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 (25)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38615366">Metabolomics of cerebrospinal fluid reveals candidate diagnostic biomarkers to distinguish between spinal muscular atrophy type II and type III.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lu M,
|
||
Wang X,
|
||
Sun N,
|
||
Huang S,
|
||
Yang L,
|
||
Li D</span><br />
|
||
<span class="medgenPMjournal">CNS Neurosci Ther</span>
|
||
2024 Apr;30(4):e14718.
|
||
doi: 10.1111/cns.14718.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38615366" target="_blank">38615366</a><a href="/pmc/articles/PMC11016346" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29172006">Two Cases of Spinal Muscular Atrophy Type II with Eosinophilic Oesophagitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fuller HR,
|
||
Shorrock HK,
|
||
Gillingwater TH,
|
||
Pigott A,
|
||
Smith V,
|
||
Kulshrestha R,
|
||
Sewry CS,
|
||
Willis TA</span><br />
|
||
<span class="medgenPMjournal">J Neuromuscul Dis</span>
|
||
2017;4(4):357-362.
|
||
doi: 10.3233/JND-170260.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29172006" target="_blank">29172006</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27890489">Spinal Muscular Atrophy, types I and II: What are the differences in body composition and resting energy expenditure?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bertoli S,
|
||
De Amicis R,
|
||
Mastella C,
|
||
Pieri G,
|
||
Giaquinto E,
|
||
Battezzati A,
|
||
Leone A,
|
||
Baranello G</span><br />
|
||
<span class="medgenPMjournal">Clin Nutr</span>
|
||
2017 Dec;36(6):1674-1680.
|
||
Epub 2016 Nov 16
|
||
doi: 10.1016/j.clnu.2016.10.020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27890489" target="_blank">27890489</a><a href="/pmc/articles/PMC5681353" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26454573">Responses to Fasting and Glucose Loading in a Cohort of Well Children with Spinal Muscular Atrophy Type II.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Davis RH,
|
||
Miller EA,
|
||
Zhang RZ,
|
||
Swoboda KJ</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
2015 Dec;167(6):1362-8.e1.
|
||
Epub 2015 Oct 9
|
||
doi: 10.1016/j.jpeds.2015.09.023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26454573" target="_blank">26454573</a><a href="/pmc/articles/PMC7599085" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21596705">Impaired mandibular function in spinal muscular atrophy type II: need for early recognition.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Bruggen HW,
|
||
van den Engel-Hoek L,
|
||
van der Pol WL,
|
||
de Wijer A,
|
||
de Groot IJ,
|
||
Steenks MH</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
2011 Nov;26(11):1392-6.
|
||
Epub 2011 May 18
|
||
doi: 10.1177/0883073811407696.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21596705" target="_blank">21596705</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spinal%20muscular%20atrophy%2C%20type%20II%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 (17)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32623818">Anesthetic management of pediatric patients undergoing intrathecal nusinersen administration for treatment of spinal muscular atrophy: A single-center experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brollier LD,
|
||
Matuszczak M,
|
||
Marri T,
|
||
Carbajal JG,
|
||
Moorman AT,
|
||
Sorial EM,
|
||
Jain R</span><br />
|
||
<span class="medgenPMjournal">Paediatr Anaesth</span>
|
||
2021 Feb;31(2):160-166.
|
||
Epub 2020 Dec 19
|
||
doi: 10.1111/pan.13964.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32623818" target="_blank">32623818</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31201046">Salbutamol tolerability and efficacy in patients with spinal muscular atrophy type II.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Frongia AL,
|
||
Natera-de Benito D,
|
||
Ortez C,
|
||
Alarcón M,
|
||
Borrás A,
|
||
Medina J,
|
||
Vigo M,
|
||
Padrós N,
|
||
Moya O,
|
||
Armas J,
|
||
Carrera-García L,
|
||
Expósito-Escudero J,
|
||
Cuadras D,
|
||
Bernal S,
|
||
Martorell L,
|
||
Colomer J,
|
||
Nascimento A</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2019 Jul;29(7):517-524.
|
||
Epub 2019 Apr 18
|
||
doi: 10.1016/j.nmd.2019.04.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31201046" target="_blank">31201046</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25861036">Upper limb evaluation and one-year follow up of non-ambulant patients with spinal muscular atrophy: an observational multicenter trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Seferian AM,
|
||
Moraux A,
|
||
Canal A,
|
||
Decostre V,
|
||
Diebate O,
|
||
Le Moing AG,
|
||
Gidaro T,
|
||
Deconinck N,
|
||
Van Parys F,
|
||
Vereecke W,
|
||
Wittevrongel S,
|
||
Annoussamy M,
|
||
Mayer M,
|
||
Maincent K,
|
||
Cuisset JM,
|
||
Tiffreau V,
|
||
Denis S,
|
||
Jousten V,
|
||
Quijano-Roy S,
|
||
Voit T,
|
||
Hogrel JY,
|
||
Servais L</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2015;10(4):e0121799.
|
||
Epub 2015 Apr 10
|
||
doi: 10.1371/journal.pone.0121799.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25861036" target="_blank">25861036</a><a href="/pmc/articles/PMC4393256" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24300782">Somatropin treatment of spinal muscular atrophy: a placebo-controlled, double-blind crossover pilot study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kirschner J,
|
||
Schorling D,
|
||
Hauschke D,
|
||
Rensing-Zimmermann C,
|
||
Wein U,
|
||
Grieben U,
|
||
Schottmann G,
|
||
Schara U,
|
||
Konrad K,
|
||
Müller-Felber W,
|
||
Thiele S,
|
||
Wilichowski E,
|
||
Hobbiebrunken E,
|
||
Stettner GM,
|
||
Korinthenberg R</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2014 Feb;24(2):134-42.
|
||
Epub 2013 Nov 13
|
||
doi: 10.1016/j.nmd.2013.10.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24300782" target="_blank">24300782</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9077498">A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zerres K,
|
||
Rudnik-Schöneborn S,
|
||
Forrest E,
|
||
Lusakowska A,
|
||
Borkowska J,
|
||
Hausmanowa-Petrusewicz I</span><br />
|
||
<span class="medgenPMjournal">J Neurol Sci</span>
|
||
1997 Feb 27;146(1):67-72.
|
||
doi: 10.1016/s0022-510x(96)00284-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9077498" target="_blank">9077498</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spinal%20muscular%20atrophy%2C%20type%20II%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 (7)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38615366">Metabolomics of cerebrospinal fluid reveals candidate diagnostic biomarkers to distinguish between spinal muscular atrophy type II and type III.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lu M,
|
||
Wang X,
|
||
Sun N,
|
||
Huang S,
|
||
Yang L,
|
||
Li D</span><br />
|
||
<span class="medgenPMjournal">CNS Neurosci Ther</span>
|
||
2024 Apr;30(4):e14718.
|
||
doi: 10.1111/cns.14718.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38615366" target="_blank">38615366</a><a href="/pmc/articles/PMC11016346" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27890489">Spinal Muscular Atrophy, types I and II: What are the differences in body composition and resting energy expenditure?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bertoli S,
|
||
De Amicis R,
|
||
Mastella C,
|
||
Pieri G,
|
||
Giaquinto E,
|
||
Battezzati A,
|
||
Leone A,
|
||
Baranello G</span><br />
|
||
<span class="medgenPMjournal">Clin Nutr</span>
|
||
2017 Dec;36(6):1674-1680.
|
||
Epub 2016 Nov 16
|
||
doi: 10.1016/j.clnu.2016.10.020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27890489" target="_blank">27890489</a><a href="/pmc/articles/PMC5681353" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27807779">The effect of scoliosis surgery on pulmonary function in spinal muscular atrophy type II patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chou SH,
|
||
Lin GT,
|
||
Shen PC,
|
||
Lue YJ,
|
||
Lu CC,
|
||
Tien YC,
|
||
Lu YM</span><br />
|
||
<span class="medgenPMjournal">Eur Spine J</span>
|
||
2017 Jun;26(6):1721-1731.
|
||
Epub 2016 Nov 2
|
||
doi: 10.1007/s00586-016-4828-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27807779" target="_blank">27807779</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21940700">Validation of the Expanded Hammersmith Functional Motor Scale in spinal muscular atrophy type II and III.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Glanzman AM,
|
||
O'Hagen JM,
|
||
McDermott MP,
|
||
Martens WB,
|
||
Flickinger J,
|
||
Riley S,
|
||
Quigley J,
|
||
Montes J,
|
||
Dunaway S,
|
||
Deng L,
|
||
Chung WK,
|
||
Tawil R,
|
||
Darras BT,
|
||
De Vivo DC,
|
||
Kaufmann P,
|
||
Finkel RS;
|
||
Pediatric Neuromuscular Clinical Research Network for Spinal Muscular Atrophy (PNCR);
|
||
Muscle Study Group (MSG)</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
2011 Dec;26(12):1499-507.
|
||
Epub 2011 Sep 21
|
||
doi: 10.1177/0883073811420294.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21940700" target="_blank">21940700</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5146579">Spinal muscular atrophy type II. A separate genetic and clinical entity from type I (Werdnig-Hoffmann disease) and type 3 (Kugelberg-Welander disease).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fried K,
|
||
Emery AE</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
1971;2(4):203-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5146579" target="_blank">5146579</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spinal%20muscular%20atrophy%2C%20type%20II%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 (13)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38615366">Metabolomics of cerebrospinal fluid reveals candidate diagnostic biomarkers to distinguish between spinal muscular atrophy type II and type III.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lu M,
|
||
Wang X,
|
||
Sun N,
|
||
Huang S,
|
||
Yang L,
|
||
Li D</span><br />
|
||
<span class="medgenPMjournal">CNS Neurosci Ther</span>
|
||
2024 Apr;30(4):e14718.
|
||
doi: 10.1111/cns.14718.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38615366" target="_blank">38615366</a><a href="/pmc/articles/PMC11016346" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37709650">Profile of cognitive abilities in spinal muscular atrophy type II and III: what is the role of motor impairment?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Buchignani B,
|
||
Cicala G,
|
||
Moriconi F,
|
||
Ricci M,
|
||
Capasso A,
|
||
Coratti G,
|
||
Casiraghi J,
|
||
Albamonte E,
|
||
Cristofani P,
|
||
Cutrona C,
|
||
Pera MC,
|
||
Antonaci L,
|
||
Roncoroni C,
|
||
Chieffo D,
|
||
Sansone VA,
|
||
Battini R,
|
||
Pane M,
|
||
Mercuri E</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2023 Oct;33(10):711-717.
|
||
Epub 2023 Sep 9
|
||
doi: 10.1016/j.nmd.2023.08.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37709650" target="_blank">37709650</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31201046">Salbutamol tolerability and efficacy in patients with spinal muscular atrophy type II.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Frongia AL,
|
||
Natera-de Benito D,
|
||
Ortez C,
|
||
Alarcón M,
|
||
Borrás A,
|
||
Medina J,
|
||
Vigo M,
|
||
Padrós N,
|
||
Moya O,
|
||
Armas J,
|
||
Carrera-García L,
|
||
Expósito-Escudero J,
|
||
Cuadras D,
|
||
Bernal S,
|
||
Martorell L,
|
||
Colomer J,
|
||
Nascimento A</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2019 Jul;29(7):517-524.
|
||
Epub 2019 Apr 18
|
||
doi: 10.1016/j.nmd.2019.04.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31201046" target="_blank">31201046</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27890489">Spinal Muscular Atrophy, types I and II: What are the differences in body composition and resting energy expenditure?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bertoli S,
|
||
De Amicis R,
|
||
Mastella C,
|
||
Pieri G,
|
||
Giaquinto E,
|
||
Battezzati A,
|
||
Leone A,
|
||
Baranello G</span><br />
|
||
<span class="medgenPMjournal">Clin Nutr</span>
|
||
2017 Dec;36(6):1674-1680.
|
||
Epub 2016 Nov 16
|
||
doi: 10.1016/j.clnu.2016.10.020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27890489" target="_blank">27890489</a><a href="/pmc/articles/PMC5681353" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24093531">Natural course of scoliosis in proximal spinal muscular atrophy type II and IIIa: descriptive clinical study with retrospective data collection of 126 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fujak A,
|
||
Raab W,
|
||
Schuh A,
|
||
Richter S,
|
||
Forst R,
|
||
Forst J</span><br />
|
||
<span class="medgenPMjournal">BMC Musculoskelet Disord</span>
|
||
2013 Oct 4;14:283.
|
||
doi: 10.1186/1471-2474-14-283.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24093531" target="_blank">24093531</a><a href="/pmc/articles/PMC3850509" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Spinal%20muscular%20atrophy%2C%20type%20II%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 (20)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
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|
||
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||
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|
||
|
||
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|
||
|
||
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|
||
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|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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|
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|
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|
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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_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>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0393538%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (26)</a></li>
|
||
<li><a href="/gtr/tests?term=C0393538%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C0393538%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (17)</a></li>
|
||
<li><a href="/gtr/tests?term=C0393538%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (4)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0393538%5bDISCUI%5d" target="_blank">See all (31)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=253550" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=83418" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Spinal%20muscular%20atrophy,%20type%20II" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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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>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22spinal%20muscular%20atrophy%2C%20type%20ii%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%2C%20type%20II%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><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov//22510849/">EuroGenetest, 2012</a><div>Clinical utility gene card for: proximal spinal muscular atrophy.</div></li></ul></div>
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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" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=6606[geneid]" target="_blank">View SMN1 variations in ClinVar</a></li><li><a href="/nuccore/209413713" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=253550" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" 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.diseaseinfosearch.org/Spinal+muscular+atrophy+type+2/6735" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/spinal_muscular_atrophy_type_ii" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Spinal%20muscular%20atrophy,%20type%20II" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/spinal-muscular-atrophy" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/4945/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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||
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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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|
||
<a href="/pubmed/clinical?term=Spinal%20muscular%20atrophy,%20type%20II" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
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<li>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d5644384f3725e596fc538">Spinal muscular atrophy, type II</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d5643884f3725e596f8e69">Spinal muscular atrophy, type IV</a>
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<div class="ralinkpop offscreen_noflow">Spinal muscular atrophy, type IV<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67d5641667c23b31e0ed64c1">Spinal Muscular Atrophy - GeneReviews®</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67d564152f30673f7b32c27d">Table B. [OMIM Entries for Spinal Muscular Atrophy (View All in OMIM)]. - GeneRe...</a>
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<div class="ralinkpop offscreen_noflow">Table B. [OMIM Entries for Spinal Muscular Atrophy (View All in OMIM)]. - GeneReviews®<div class="brieflinkpopdesc"></div></div>
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