Catalog

Hereditary sensory and autonomic neuropathy Type IA

No MMS code

Link to WHO Definition

Hereditary sensory and autonomic neuropathy Type IA – http://id.who.int/icd/entity/779564433

Hereditary sensory autonomic neuropathy type I is an autosomal dominant (mutation in the SPTLC1 gene that encodes for subunit 1 of serine palmitoyltransferase) sensory radiculo neuropathy that presents in the second decade. It present with distal pain and nociceptive and thermal perception deficits, later to be followed by anhidrosis, trophic ulcers, acral injuries, stress fractures and osteomyelitis.