Spinal muscular atrophy with lower extremity predominance
Spinal muscular atrophy with lower extremity predominance (SMA-LED) 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 SMA-LED.
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Spinal muscular atrophy with lower extremity predominance
Spinal muscular atrophy with lower extremity predominance (SMA-LED) 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 SMA-LED.
has abstract
Spinal muscular atrophy with l ...... current name of the disorder.
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OMIM id
Wikipage page ID
35,566,999
Wikipage revision ID
722,442,533
subject
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Spinal muscular atrophy with l ...... e is no known cure to SMA-LED.
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label
Spinal muscular atrophy with lower extremity predominance
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