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<meta name="keywords" content="C1843505, anterior horn cell loss, degeneration of alpha-motor neurons in anterior horn cells of the spinal cord, degeneration of anterior horn cells, degeneration of spinal cord anterior horn cells, finding, loss of anterior horn cells, loss of anterior horn cells in the spinal cord, loss of spinal cord anterior horn cells, progressive loss of anterior horn cells, spinal cord anterior horn cell degeneration, 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="" /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=375215
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ConceptID=C1843505
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Degeneration of anterior horn cells</div></h1><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><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Degeneration of alpha-motor neurons in anterior horn cells of the spinal cord; Degeneration of spinal cord anterior horn cells; Loss of anterior horn cells; Loss of anterior horn cells in the spinal cord; Loss of spinal cord anterior horn cells; Spinal cord anterior horn cell degeneration</td></tr>
|
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<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0002398">HP:0002398</a></td></tr>
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<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>
|
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<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=C1843505[DISCUI]&test_type=Clinical" ref="ncbi_uid=375215">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Degeneration of anterior horn cells</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/105425" ref="tree=MeSH" title="MedGen record for Abnormality of the nervous system">Abnormality of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/868416" ref="tree=MeSH" title="MedGen record for Abnormal nervous system morphology">Abnormal nervous system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/892343" ref="tree=MeSH" title="MedGen record for Morphological central nervous system abnormality">Morphological central nervous system abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/870453" ref="tree=MeSH" title="MedGen record for Atrophy/Degeneration affecting the central nervous system">Atrophy/Degeneration affecting the central nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/870450" ref="tree=MeSH" title="MedGen record for Motor neuron atrophy">Motor neuron atrophy</a></span><ul><li><span class="matched_ds">Degeneration of anterior horn cells</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_112">
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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>
|
||
<div class="portlet_content ln clinfeat">
|
||
<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>
|
||
<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>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/101816">Condition Record</a></div></div>
|
||
<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>
|
||
<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>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/95975">Condition Record</a></div></div>
|
||
<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>
|
||
<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>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/371854">Condition Record</a></div></div>
|
||
<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>
|
||
<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>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/325364">Condition Record</a></div></div>
|
||
<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>
|
||
<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>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335969">Condition Record</a></div></div>
|
||
<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>
|
||
<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>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/337123">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_346886"><div><strong>Hereditary motor and sensory neuropathy, Okinawa type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346886</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.">C1858338</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Okinawa-type hereditary motor and sensory neuropathy (HMSNO) is an autosomal dominant neurodegenerative disorder characterized by young adult onset of proximal or distal muscle weakness and atrophy, muscle cramps, and fasciculations, with later onset of distal sensory impairment. The disorder is slowly progressive and clinically resembles amyotrophic lateral sclerosis (ALS; see 105400) (summary by Ishiura et al., 2012).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/346886">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_400169"><div><strong>Amyotrophic lateral sclerosis type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400169</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.">C1862939</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Amyotrophic lateral sclerosis is a neurodegenerative disorder characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. ALS usually begins with asymmetric involvement of the muscles in middle adult life. Approximately 10% of ALS cases are familial (Siddique and Deng, 1996). ALS is sometimes referred to as 'Lou Gehrig disease' after the famous American baseball player who was diagnosed with the disorder. Rowland and Shneider (2001) and Kunst (2004) provided extensive reviews of ALS. Some forms of ALS occur with frontotemporal dementia (FTD); see 105500. Ranganathan et al. (2020) provided a detailed review of the genes involved in different forms of ALS with FTD, noting that common disease pathways involve disturbances in RNA processing, autophagy, the ubiquitin proteasome system, the unfolded protein response, and intracellular trafficking. The current understanding of ALS and FTD is that some forms of these disorders represent a spectrum of disease with converging mechanisms of neurodegeneration. Familial ALS is distinct from a form of ALS with dementia reported in cases on Guam (105500) (Espinosa et al., 1962; Husquinet and Franck, 1980), in which the histology is different and dementia and parkinsonism complicate the clinical picture. Genetic Heterogeneity of Amyotrophic Lateral Sclerosis ALS is a genetically heterogeneous disorder, with several causative genes and mapped loci. ALS6 (608030) is caused by mutation in the FUS gene (137070) on chromosome 16p11; ALS8 (608627) is caused by mutation in the VAPB gene (605704) on chromosome 13; ALS9 (611895) is caused by mutation in the ANG gene (105850) on chromosome 14q11; ALS10 (612069) is caused by mutation in the TARDBP gene (605078) on 1p36; ALS11 (612577) is caused by mutation in the FIG4 gene (609390) on chromosome 6q21; ALS12 (613435) is caused by mutation in the OPTN gene (602432) on chromosome 10p13; ALS15 (300857) is caused by mutation in the UBQLN2 gene (300264) on chromosome Xp11; ALS18 (614808) is caused by mutation in the PFN1 gene (176610) on chromosome 17p13; ALS19 (615515) is caused by mutation in the ERBB4 gene (600543) on chromosome 2q34; ALS20 (615426) is caused by mutation in the HNRNPA1 gene (164017) on chromosome 12q13; ALS21 (606070) is caused by mutation in the MATR3 gene (164015) on chromosome 5q31; ALS22 (616208) is caused by mutation in the TUBA4A gene (191110) on chromosome 2q35; ALS23 (617839) is caused by mutation in the ANXA11 gene (602572) on chromosome 10q23; ALS26 (619133) is caused by mutation in the TIA1 gene (603518) on chromosome 2p13; ALS27 (620285) is caused by mutation in the SPTLC1 gene (605712) on chromosome 9q22; and ALS28 (620452) is caused by mutation in the LRP12 gene (618299) on chromosome 8q22. Loci associated with ALS have been found on chromosomes 18q21 (ALS3; 606640) and 20p13 (ALS7; 608031). Intermediate-length polyglutamine repeat expansions in the ATXN2 gene (601517) contribute to susceptibility to ALS (ALS13; 183090). Susceptibility to ALS24 (617892) is conferred by mutation in the NEK1 gene (604588) on chromosome 4q33, and susceptibility to ALS25 (617921) is conferred by mutation in the KIF5A gene (602821) on chromosome 12q13. Susceptibility to ALS has been associated with mutations in other genes, including deletions or insertions in the gene encoding the heavy neurofilament subunit (NEFH; 162230); deletions in the gene encoding peripherin (PRPH; 170710); and mutations in the dynactin gene (DCTN1; 601143). Some forms of ALS show juvenile onset. See juvenile-onset ALS2 (205100), caused by mutation in the alsin (606352) gene on 2q33; ALS4 (602433), caused by mutation in the senataxin gene (SETX; 608465) on 9q34; ALS5 (602099), caused by mutation in the SPG11 gene (610844) on 15q21; and ALS16 (614373), caused by mutation in the SIGMAR1 gene (601978) on 9p13.</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/400169">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_355983"><div><strong>Amyotrophic lateral sclerosis type 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355983</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.">C1865409</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Juvenile amyotrophic lateral sclerosis-4 (ALS4) is an autosomal dominant disorder characterized by distal muscle weakness and atrophy, normal sensation, and pyramidal signs, with onset of symptoms before the age of 25 years, a slow rate of progression, and a normal life span (summary by Chen et al., 2004). For a phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 (105400).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/355983">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1645924"><div><strong>Amyotrophic lateral sclerosis type 23</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1645924</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.">C4693381</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An autosomal dominant subtype of amyotrophic lateral sclerosis caused by mutation(s) in the ANXA11 gene, encoding annexin A11.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1645924">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_400169" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Amyotrophic lateral sclerosis type 1</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1645924" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Amyotrophic lateral sclerosis type 23</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355983" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Amyotrophic lateral sclerosis type 4</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_346886" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary motor and sensory neuropathy, Okinawa type</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (11)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<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>
|
||
<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>
|
||
<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>
|
||
<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></span></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>
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<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/33682724">Effect of Discontinuation of Nusinersen Treatment in Long-Standing SMA3.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hiebeler M,
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Abicht A,
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Reilich P,
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Walter MC</span><br />
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<span class="medgenPMjournal">J Neuromuscul Dis</span>
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2021;8(4):537-542.
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doi: 10.3233/JND-210644.
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||
<span class="bold">PMID: </span><a href="/pubmed/33682724" target="_blank">33682724</a></div>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/32006461">Drug treatment for spinal muscular atrophy types II and III.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Wadman RI,
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van der Pol WL,
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Bosboom WM,
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||
Asselman FL,
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||
van den Berg LH,
|
||
Iannaccone ST,
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||
Vrancken AF</span><br />
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||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
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||
2020 Jan 6;1(1):CD006282.
|
||
doi: 10.1002/14651858.CD006282.pub5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32006461" target="_blank">32006461</a><a href="/pmc/articles/PMC6995983" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31825542">Drug treatment for spinal muscular atrophy type I.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wadman RI,
|
||
van der Pol WL,
|
||
Bosboom WM,
|
||
Asselman FL,
|
||
van den Berg LH,
|
||
Iannaccone ST,
|
||
Vrancken AF</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2019 Dec 11;12(12):CD006281.
|
||
doi: 10.1002/14651858.CD006281.pub5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31825542" target="_blank">31825542</a><a href="/pmc/articles/PMC6905354" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22degeneration%20of%20anterior%20horn%20cells%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 (10)</a></div></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
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||
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/32006461">Drug treatment for spinal muscular atrophy types II and III.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wadman RI,
|
||
van der Pol WL,
|
||
Bosboom WM,
|
||
Asselman FL,
|
||
van den Berg LH,
|
||
Iannaccone ST,
|
||
Vrancken AF</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2020 Jan 6;1(1):CD006282.
|
||
doi: 10.1002/14651858.CD006282.pub5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32006461" target="_blank">32006461</a><a href="/pmc/articles/PMC6995983" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31626855">Presentation and Management Patterns of Lower Urinary Tract Symptoms in Adults Due to Rare Inherited Neuromuscular Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Roth JD,
|
||
Pariser JJ,
|
||
Stout TE,
|
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Misseri R,
|
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Elliott SP</span><br />
|
||
<span class="medgenPMjournal">Urology</span>
|
||
2020 Jan;135:165-170.
|
||
Epub 2019 Oct 15
|
||
doi: 10.1016/j.urology.2019.09.039.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31626855" target="_blank">31626855</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29627031">Pregnancy outcomes in women with spinal muscular atrophy: A review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abati E,
|
||
Corti S</span><br />
|
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<span class="medgenPMjournal">J Neurol Sci</span>
|
||
2018 May 15;388:50-60.
|
||
Epub 2018 Mar 2
|
||
doi: 10.1016/j.jns.2018.03.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29627031" target="_blank">29627031</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22513939">Drug treatment for spinal muscular atrophy type I.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wadman RI,
|
||
Bosboom WM,
|
||
van der Pol WL,
|
||
van den Berg LH,
|
||
Wokke JH,
|
||
Iannaccone ST,
|
||
Vrancken AF</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2012 Apr 18;(4):CD006281.
|
||
doi: 10.1002/14651858.CD006281.pub4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22513939" target="_blank">22513939</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9260645">Multiple congenital contractures.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vanpaemel L,
|
||
Schoenmakers M,
|
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van Nesselrooij B,
|
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Pruijs H,
|
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Helders P</span><br />
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<span class="medgenPMjournal">J Pediatr Orthop B</span>
|
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1997 Jul;6(3):172-8.
|
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doi: 10.1097/01202412-199707000-00004.
|
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<span class="bold">PMID: </span><a href="/pubmed/9260645" target="_blank">9260645</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Degeneration%20of%20anterior%20horn%20cells%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 (74)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36442412">Fetuses and infants with Amyoplasia congenita in congenital Zika syndrome: The evidence of a viral cause. A narrative review of 144 cases.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Hageman G,
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Nihom J</span><br />
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<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
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2023 Jan;42:1-14.
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Epub 2022 Nov 9
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doi: 10.1016/j.ejpn.2022.11.002.
|
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<span class="bold">PMID: </span><a href="/pubmed/36442412" target="_blank">36442412</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33130193">Current and emerging therapies for Duchenne muscular dystrophy and spinal muscular atrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iftikhar M,
|
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Frey J,
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Shohan MJ,
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Malek S,
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Mousa SA</span><br />
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<span class="medgenPMjournal">Pharmacol Ther</span>
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2021 Apr;220:107719.
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Epub 2020 Oct 29
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doi: 10.1016/j.pharmthera.2020.107719.
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<span class="bold">PMID: </span><a href="/pubmed/33130193" target="_blank">33130193</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23264687">Transcranial magnetic stimulation and amyotrophic lateral sclerosis: pathophysiological insights.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vucic S,
|
||
Ziemann U,
|
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Eisen A,
|
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Hallett M,
|
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Kiernan MC</span><br />
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<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
|
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2013 Oct;84(10):1161-70.
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Epub 2012 Dec 21
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doi: 10.1136/jnnp-2012-304019.
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<span class="bold">PMID: </span><a href="/pubmed/23264687" target="_blank">23264687</a><a href="/pmc/articles/PMC3786661" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15512888">The Neurophysiological Index in ALS.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Swash M,
|
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de Carvalho M</span><br />
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<span class="medgenPMjournal">Amyotroph Lateral Scler Other Motor Neuron Disord</span>
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2004 Sep;5 Suppl 1:108-10.
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doi: 10.1080/17434470410020067.
|
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<span class="bold">PMID: </span><a href="/pubmed/15512888" target="_blank">15512888</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9260645">Multiple congenital contractures.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vanpaemel L,
|
||
Schoenmakers M,
|
||
van Nesselrooij B,
|
||
Pruijs H,
|
||
Helders P</span><br />
|
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<span class="medgenPMjournal">J Pediatr Orthop B</span>
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1997 Jul;6(3):172-8.
|
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doi: 10.1097/01202412-199707000-00004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9260645" target="_blank">9260645</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Degeneration%20of%20anterior%20horn%20cells%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 (83)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38135619">Effect of nusinersen after 3 years of treatment in 57 young children with SMA in terms of SMN2 copy number or type.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Audic F,
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Dubois SM,
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Durigneux J,
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Barnerias C,
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Isapof A,
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Nougues MC,
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Davion JB,
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Richelme C,
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Vuillerot C,
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Legoff L,
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Sabouraud P,
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Cances C,
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Laugel V,
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Ropars J,
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Espil-Taris C,
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Trommsdorff V,
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Pervillé A,
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Garcia-de-la-Banda MG,
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Testard H,
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Chouchane M,
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Walther-Louvier U,
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Schweizer C,
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Halbert C,
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Badri M,
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Quijano-Roy S,
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Chabrol B,
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Desguerre I</span><br />
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<span class="medgenPMjournal">Arch Pediatr</span>
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||
2024 Feb;31(2):117-123.
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||
Epub 2023 Dec 21
|
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doi: 10.1016/j.arcped.2023.10.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38135619" target="_blank">38135619</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33682724">Effect of Discontinuation of Nusinersen Treatment in Long-Standing SMA3.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hiebeler M,
|
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Abicht A,
|
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Reilich P,
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Walter MC</span><br />
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<span class="medgenPMjournal">J Neuromuscul Dis</span>
|
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2021;8(4):537-542.
|
||
doi: 10.3233/JND-210644.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33682724" target="_blank">33682724</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31626855">Presentation and Management Patterns of Lower Urinary Tract Symptoms in Adults Due to Rare Inherited Neuromuscular Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Roth JD,
|
||
Pariser JJ,
|
||
Stout TE,
|
||
Misseri R,
|
||
Elliott SP</span><br />
|
||
<span class="medgenPMjournal">Urology</span>
|
||
2020 Jan;135:165-170.
|
||
Epub 2019 Oct 15
|
||
doi: 10.1016/j.urology.2019.09.039.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31626855" target="_blank">31626855</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22513939">Drug treatment for spinal muscular atrophy type I.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wadman RI,
|
||
Bosboom WM,
|
||
van der Pol WL,
|
||
van den Berg LH,
|
||
Wokke JH,
|
||
Iannaccone ST,
|
||
Vrancken AF</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2012 Apr 18;(4):CD006281.
|
||
doi: 10.1002/14651858.CD006281.pub4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22513939" target="_blank">22513939</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15512888">The Neurophysiological Index in ALS.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Swash M,
|
||
de Carvalho M</span><br />
|
||
<span class="medgenPMjournal">Amyotroph Lateral Scler Other Motor Neuron Disord</span>
|
||
2004 Sep;5 Suppl 1:108-10.
|
||
doi: 10.1080/17434470410020067.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15512888" target="_blank">15512888</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Degeneration%20of%20anterior%20horn%20cells%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 (42)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33682724">Effect of Discontinuation of Nusinersen Treatment in Long-Standing SMA3.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hiebeler M,
|
||
Abicht A,
|
||
Reilich P,
|
||
Walter MC</span><br />
|
||
<span class="medgenPMjournal">J Neuromuscul Dis</span>
|
||
2021;8(4):537-542.
|
||
doi: 10.3233/JND-210644.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33682724" target="_blank">33682724</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29627031">Pregnancy outcomes in women with spinal muscular atrophy: A review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abati E,
|
||
Corti S</span><br />
|
||
<span class="medgenPMjournal">J Neurol Sci</span>
|
||
2018 May 15;388:50-60.
|
||
Epub 2018 Mar 2
|
||
doi: 10.1016/j.jns.2018.03.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29627031" target="_blank">29627031</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22513939">Drug treatment for spinal muscular atrophy type I.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wadman RI,
|
||
Bosboom WM,
|
||
van der Pol WL,
|
||
van den Berg LH,
|
||
Wokke JH,
|
||
Iannaccone ST,
|
||
Vrancken AF</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2012 Apr 18;(4):CD006281.
|
||
doi: 10.1002/14651858.CD006281.pub4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22513939" target="_blank">22513939</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15512888">The Neurophysiological Index in ALS.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Swash M,
|
||
de Carvalho M</span><br />
|
||
<span class="medgenPMjournal">Amyotroph Lateral Scler Other Motor Neuron Disord</span>
|
||
2004 Sep;5 Suppl 1:108-10.
|
||
doi: 10.1080/17434470410020067.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15512888" target="_blank">15512888</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9260645">Multiple congenital contractures.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vanpaemel L,
|
||
Schoenmakers M,
|
||
van Nesselrooij B,
|
||
Pruijs H,
|
||
Helders P</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Orthop B</span>
|
||
1997 Jul;6(3):172-8.
|
||
doi: 10.1097/01202412-199707000-00004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9260645" target="_blank">9260645</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Degeneration%20of%20anterior%20horn%20cells%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 (62)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34927205">Motor neuron pathology in CANVAS due to RFC1 expansions.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Huin V,
|
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Coarelli G,
|
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Guemy C,
|
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Boluda S,
|
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Debs R,
|
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Mochel F,
|
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Stojkovic T,
|
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Grabli D,
|
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Maisonobe T,
|
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Gaymard B,
|
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Lenglet T,
|
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Tard C,
|
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Davion JB,
|
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Sablonnière B,
|
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Monin ML,
|
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Ewenczyk C,
|
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Viala K,
|
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Charles P,
|
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Le Ber I,
|
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Reilly MM,
|
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Houlden H,
|
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Cortese A,
|
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Seilhean D,
|
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Brice A,
|
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Durr A</span><br />
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<span class="medgenPMjournal">Brain</span>
|
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2022 Jun 30;145(6):2121-2132.
|
||
doi: 10.1093/brain/awab449.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34927205" target="_blank">34927205</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34573328">Alternative Splicing Role in New Therapies of Spinal Muscular Atrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lejman J,
|
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Zieliński G,
|
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Gawda P,
|
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Lejman M</span><br />
|
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<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2021 Aug 28;12(9)
|
||
doi: 10.3390/genes12091346.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34573328" target="_blank">34573328</a><a href="/pmc/articles/PMC8468182" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28895473">Neuroinflammation in Amyotrophic Lateral Sclerosis: Role of Redox (dys)Regulation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">D'Ambrosi N,
|
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Cozzolino M,
|
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Carrì MT</span><br />
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<span class="medgenPMjournal">Antioxid Redox Signal</span>
|
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2018 Jul 1;29(1):15-36.
|
||
Epub 2017 Oct 16
|
||
doi: 10.1089/ars.2017.7271.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28895473" target="_blank">28895473</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23264687">Transcranial magnetic stimulation and amyotrophic lateral sclerosis: pathophysiological insights.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vucic S,
|
||
Ziemann U,
|
||
Eisen A,
|
||
Hallett M,
|
||
Kiernan MC</span><br />
|
||
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
|
||
2013 Oct;84(10):1161-70.
|
||
Epub 2012 Dec 21
|
||
doi: 10.1136/jnnp-2012-304019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23264687" target="_blank">23264687</a><a href="/pmc/articles/PMC3786661" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10540026">Motor neurone metabolism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Silani V,
|
||
Ciammola A,
|
||
Pizzuti A,
|
||
Cardin V,
|
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Scarlato G</span><br />
|
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<span class="medgenPMjournal">J Neurol Sci</span>
|
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1999 Oct 31;169(1-2):161-9.
|
||
doi: 10.1016/s0022-510x(99)00240-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10540026" target="_blank">10540026</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Degeneration%20of%20anterior%20horn%20cells%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 (123)</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/32006461">Drug treatment for spinal muscular atrophy types II and III.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wadman RI,
|
||
van der Pol WL,
|
||
Bosboom WM,
|
||
Asselman FL,
|
||
van den Berg LH,
|
||
Iannaccone ST,
|
||
Vrancken AF</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2020 Jan 6;1(1):CD006282.
|
||
doi: 10.1002/14651858.CD006282.pub5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32006461" target="_blank">32006461</a><a href="/pmc/articles/PMC6995983" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31825542">Drug treatment for spinal muscular atrophy type I.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wadman RI,
|
||
van der Pol WL,
|
||
Bosboom WM,
|
||
Asselman FL,
|
||
van den Berg LH,
|
||
Iannaccone ST,
|
||
Vrancken AF</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2019 Dec 11;12(12):CD006281.
|
||
doi: 10.1002/14651858.CD006281.pub5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31825542" target="_blank">31825542</a><a href="/pmc/articles/PMC6905354" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22513939">Drug treatment for spinal muscular atrophy type I.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wadman RI,
|
||
Bosboom WM,
|
||
van der Pol WL,
|
||
van den Berg LH,
|
||
Wokke JH,
|
||
Iannaccone ST,
|
||
Vrancken AF</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2012 Apr 18;(4):CD006281.
|
||
doi: 10.1002/14651858.CD006281.pub4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22513939" target="_blank">22513939</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22161399">Drug treatment for spinal muscular atrophy type I.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wadman RI,
|
||
Bosboom WM,
|
||
van den Berg LH,
|
||
Wokke JH,
|
||
Iannaccone ST,
|
||
Vrancken AF</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2011 Dec 7;(12):CD006281.
|
||
doi: 10.1002/14651858.CD006281.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22161399" target="_blank">22161399</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19160274">Drug treatment for spinal muscular atrophy type I.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bosboom W,
|
||
Vrancken AF,
|
||
van den Berg LH,
|
||
Wokke J,
|
||
Iannaccone ST</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2009 Jan 21;(1):CD006281.
|
||
doi: 10.1002/14651858.CD006281.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19160274" target="_blank">19160274</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Degeneration%20of%20anterior%20horn%20cells%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 (8)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1843505%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (2)</a></li>
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<li><a href="/gtr/tests?term=C1843505%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (2)</a></li>
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