hereditary sensory and autonomic neuropathy type 2A
hereditary sensory and autonomic neuropathy type 2AAn autosomal recessive disorder (OMIM:201300) characterised by impaired pain, temperature and touch sensation of limbs and trunk, which develops in infancy or early childhood. It is accompanied by paronychia, whitlows, ulcers, Charcot joints, reduced or absent tendon reflexes, mild autonomic dysfunction, absent sensory nerve action potentials, virtual absence of myelinated fibres with decreased unmyelinated fibres in sural nerves, and frequent need for amputation of affected extremities.
Caused by defects of WNK1, which encodes a protein that controls the transport of sodium and chloride ions.
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