Congenital distal spinal muscular atrophy

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.

[2] The presentation is as follows:[medical citation needed] Congenital distal spinal muscular atrophy is caused by a mutation of the TRPV4 gene found on the 12q23-12q24.1.

[citation needed] The TRPV4 (transient receptor potential vanilloid 4) gene, located on chromosome 12, encodes for a protein that serves as an ion channel, typically found in the plasma membrane and is permeable to Ca2+.

[4] TRPV4 plays a major role in mechanosensation, as well as osmosensory functions in nerve endings, endothelia, and alveoli.

[6] The following are useful in diagnosis:[medical citation needed] Congenital dSMA has a relatively stable disease course, with disability mainly attributed to increased contractures rather than loss of muscle strength.