spinal muscular atrophy, distal, congenital non-progressive
spinal muscular atrophy, distal, congenital non-progressiveA clinically variable neuromuscular disorder (OMIM:600175) characterised by congenital motor neuron disorder restricted to the lower body.
Non-progressive thigh muscle atrophy, weak thigh adductors and knee and foot extensors, minimal jaw muscle and neck flexor weakness, flexion contractures of knees and pes equinovarus. Tendon reflexes are normal.
Caused by defects in TRPV4, which encodes a nonselective cation channel thought to sense mechanical and osmotic changes and regulate systemic osmotic pressure.