neuropathy, hereditary sensory and autonomic, type 1C

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neuropathy, hereditary sensory and autonomic, type 1C

A form (OMIM:613640) of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterised by degeneration of dorsal root and autonomic ganglion cells, as well as by prominent sensory abnormalities with a variable degree of motor and autonomic dysfunction. The neurologic form is often complicated by severe infections, osteomyelitis and amputations. 

Clinical findings
Loss of touch and vibration sense in feet, dysaesthesia and severe panmodal sensory loss in the upper and lower limbs, distal lower limb sensory loss with ulceration and osteomyelitis, distal muscle weakness.

Molecular pathology
Caused by defects of SPTLC2, which encodes a long-chain base subunit of serine palmitoyltransferase, a key enzyme in sphingolipid synthesis.
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