Congenital distal spinal muscular atrophy

Hereditary condition characterized by muscle wasting

Congenital distal spinal muscular atrophy (cDSMA), also known as distal hereditary motor neuropathy type VIII (dHMN8), is a hereditary medical condition characterized by muscle wasting (atrophy), particularly of distal muscles in legs and hands, and by early-onset contractures 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.

This keyword could refer to multiple things. Here are some suggestions: