neuropathy—hereditary sensory and autonomic—1C

NEUROLOGY

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, and 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 Defects of SPTLC2, which encodes a subunit of serine palmitoyltransferase, a key enzyme in sphingolipid synthesis, cause neuropathy—hereditary sensory and autonomic—1C. 

Synonym Hereditary sensory neuropathy type 1C 

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPTLC2

http://www.uniprot.org/uniprot/O15270