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

More general terms

• hereditary sensory & autonomic neuropathy

Database

• OMIM: https://mirror.omim.org/entry/162400