<unk>  is a hereditary condition characterized by muscle wasting<unk> , particularly of<unk>  muscles in legs and hands, and by early-onset contractures (permanent shortening of a muscle or joint) of the hip, knee, and ankle. Affected individuals often have shorter lower limbs relative to the trunk and upper limbs. The condition is a result of a loss of anterior horn cells localized to lumbar and cervical regions of the spinal cord early in infancy, which in turn is caused by a mutation of the TRPV4 gene. The disorder is inherited in an autosomal dominant manner. Arm muscle and function, as well as cardiac and respiratory functions are typically well preserved.
Congenital distal spinal muscular atrophy
Congenital muscular dystrophy
Spinal muscular atrophies
Distal hereditary motor neuronopathies
Spinal muscular atrophy
Jokela type spinal muscular atrophy
Spinal muscular atrophy with lower extremity predominance 1
Monomelic amyotrophy