Spinal muscular atrophy with lower extremity predominance

Spinal muscular atrophy with lower extremity predominance (SMA-LED; OMIM: ) is a rare neuromuscular disorder of infants caused by a genetic mutation in the DYNC1H1 gene (chromosome 14q32). The condition is inherited in an autosomal dominant manner and is characterised by severe muscle atrophy which is especially prominent in legs.