Spinal muscular atrophy with lower extremity predominance
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| Synonyms | SMA-LED |
| Pronounce | N/A |
| Field | neurology |
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Spinal muscular atrophy with lower extremity predominance is an extremely rare neuromuscular disorder of infants characterised by severe progressive muscle atrophy which is especially prominent in legs.[1]
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)[2][3] and is inherited in an autosomal dominant manner. As with many genetic disorders, there is no known cure to SMA-LED.
The condition was first described in a multi-generational family by Walter Timme in 1917.[4] 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.[1][5]
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Contributors: Prab R. Tumpati, MD
