<unk>  (SMALED1) is an extremely rare neuromuscular disorder of infants characterised by severe progressive muscle<unk>  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<unk> 917. 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.
Spinal muscular atrophy with lower extremity predominance 1
Spinal muscular atrophy with lower extremity predominance 2A
Spinal muscular atrophy with lower extremity predominance 2B
Non-progressive congenital ataxia
Congenital distal spinal muscular atrophy
Madras motor neuron disease
Autosomal recessive spastic ataxia of Charlevoix-Saguenay
Autosomal recessive cerebellar ataxia