<unk>  is caused by a mutation of the TRPV4 gene found on the 12q23-12q24.1. The mutation causes an affected individual to have lower levels of TRPV4 expression. This deficiency can lead to abnormal osmotic regulation.<unk>  dSMA is genetically heterogeneous, meaning a mutation on this gene can cause a plethora of other phenotypically related or phenotypically unrelated diseases depending on the region that is mutated.
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