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hereditary sensory & autonomic neuropathy type 1C (HSAN1C)
Pathology:
- degeneration of dorsal root & autonomic ganglion cells
- sensory &/or autonomic abnormalities
- variable degree of motor & autonomic dysfunction
Genetics:
- associated with defects in SPTLC2
Clinical manifestations:
- loss of touch & vibration in the feet
- dysesthesia
- severe panmodal sensory loss in the upper & lower limbs
- distal lower limb sensory loss
- distal muscle weakness
Complications:
- distal lower limb ulceration & osteomyelitis
General
hereditary sensory & autonomic neuropathy
Database Correlations
OMIM 613640
References
OMIM :accession 613640