spinal muscular atrophy, distal, congenital non-progressive

(redirected from distal spinal muscular atrophy congenital non-progressive)

spinal muscular atrophy, distal, congenital non-progressive

A clinically variable neuromuscular disorder (OMIM:600175) characterised by congenital motor neuron disorder restricted to the lower body.

Clinical findings
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.

Molecular pathology
Caused by defects in TRPV4, which encodes a nonselective cation channel thought to sense mechanical and osmotic changes and regulate systemic osmotic pressure.
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