spinal muscular atrophy—distal—congenital non-progressive

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spinal muscular atrophy—distal—congenital non-progressive2016-11-28T04:46:13+00:00

spinal muscular atrophy—distal—congenital non-progressive

NEUROLOGY

A clinically variable, neuromuscular disorder (OMIM:600175) characterised by congenital lower 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 Defects in TRPV4, which encodes a nonselective cation channel thought to sense mechanical and osmotic changes and regulate systemic osmotic pressure, cause spinal muscular atrophy—distal—congenital non-progressive. 

Synonyms Distal spinal muscular atrophy congenital non-progressive, DSMAC, spinal muscular atrophy—congenital benign—with contractures 

References http://www.uniprot.org/uniprot/Q9HBA0

http://www.omim.org/entry/600175

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