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Statements

Subject Item
dbr:List_of_diseases_(S)
dbo:wikiPageWikiLink
dbr:Spinal_muscular_atrophy_with_lower_extremity_predominance_1
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dbr:Charcot–Marie–Tooth_disease_classifications
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dbr:Spinal_muscular_atrophy_with_lower_extremity_predominance_1
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Subject Item
dbr:Spinal_muscular_atrophy_with_lower_extremity_predominance_1
rdf:type
owl:Thing dbo:Disease wikidata:Q12136
rdfs:label
Spinal muscular atrophy with lower extremity predominance 1
rdfs:comment
Spinal muscular atrophy with lower extremity predominance 1 (SMALED1) is an extremely rare neuromuscular disorder of infants characterised by severe progressive muscle atrophy which is especially prominent in legs. The disorder is associated with a genetic mutation in the DYNC1H1 gene (the gene responsible also for one of the axonal types of Charcot–Marie–Tooth disease) and is inherited in an autosomal dominant manner. As with many genetic disorders, there is no known cure to SMALED1.
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dbp:diagnosis
Molecular test
dbp:onset
Infancy
dbp:symptoms
Progressive muscle atrophy in legs
dbp:caption
Spinal muscular atrophy with lower extremity predominance is inherited in an autosomal dominant manner.
dbp:causes
Mutation in DYNC1H1 gene
dbp:field
Neurology
dbp:synonyms
Lower extremity predominant spinal muscular atrophy type 1, SMALED1
dbo:abstract
Spinal muscular atrophy with lower extremity predominance 1 (SMALED1) is an extremely rare neuromuscular disorder of infants characterised by severe progressive muscle atrophy which is especially prominent in legs. The disorder is associated with a genetic mutation in the DYNC1H1 gene (the gene responsible also for one of the axonal types of Charcot–Marie–Tooth disease) and is inherited in an autosomal dominant manner. As with many genetic disorders, there is no known cure to SMALED1. The condition was first described in a multi-generational family by Walter Timme in 1917. Its linkage to the DYNC1H1 gene was discovered in 2010 by M. B. Harms, et al., who also proposed the current name of the disorder.
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dbr:SMALED1
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