neuropathy, hereditary sensory and autonomic, type 1A
neuropathy, hereditary sensory and autonomic, type 1AAn autosomal dominant hereditary axonal neuropathy (OMIM:162400), a genetically and clinically heterogeneous group of disorders characterised by degeneration of dorsal root and autonomic ganglion cells, as well as by sensory and/or autonomic abnormalities, with an onset in the second or third decades of life.
Initially, loss of pain, touch, heat and cold sensation over the feet, followed by distal muscle wasting and weakness. Loss of pain sensation leads to chronic skin ulcers and need for distal amputations.
Caused by defects of SPTLC1, which encodes a long-chain base subunit of serine palmitoyltransferase, a key enzyme in sphingolipid synthesis.