Neuropathy, hereditary sensory and autonomic, type 1A
Neuropathy, hereditary sensory and autonomic, type 1A
Definition
An axonal form of hereditary motor and sensory neuropathy distinguished by prominent early sensory loss and later positive sensory phenomena, caused by mutations in SPTLC1.
Also known as hereditary sensory and autonomic neuropathy type 1 caused by mutation in SPTLC1, HSAN1A, SPTLC1 hereditary sensory and autonomic neuropathy type 1 — per MONDO