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hereditary sensory & autonomic neuropathy type 1A (HSAN1)
Pathology:
- axonal neuropathy
Genetics:
- autosomal dominant
- associated with defects in SPTLC1
Clinical manifestations:
- with onset in the second or third decades
- initial symptoms are loss of pain, touch, & temperature sensation over the feet, followed by distal muscle wasting & muscle weakness
Complications:
- loss of pain sensation leads to chronic skin ulcers & distal amputations
General
hereditary sensory & autonomic neuropathy
Database Correlations
OMIM 162400
References
- Bejaoui et al.
SPTLC1 Is Mutated in Hereditary Sensory Neuropathy, Type 1
Nature Genetics 27:261-2, 2001
PMID: 11242106