" /> Hereditary sensory and autonomic neuropathy Type IA - CISMeF





Preferred Label : Hereditary sensory and autonomic neuropathy Type IA;

ICD-11 definition : 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 follwoed by anhidrosis, trophic ulcers, acral injuries, stress fractures and osteomyelitis.;

ICD-11 synonym : Hereditary sensory autonomic neuropathy Type IA; HSAN1A - [Hereditary sensory autonomic neuropathy Type IA];

ICD-11 acronym : HSAN1A;

Détails


Vous pouvez consulter :

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 follwoed by anhidrosis, trophic ulcers, acral injuries, stress fractures and osteomyelitis.

Nous contacter.
28/07/2025


[Accueil] [Haut de page]

© CHU de Rouen. Toute utilisation partielle ou totale de ce document doit mentionner la source.