Neuropatía sensitiva y autonómica hereditaria
La frecuencia de portadores de disautonomía familiar es de aproximadamente 1 entre 30 y 1 entre 36 en personas de ascendencia judía asquenazí.
Un grupo de neuropatías, entre ellas la disautonomía familiar (ELP1), HSAN1 (SPTLC1/SPTLC2), HSAN2 (WNK1, RETREG1) y la insensibilidad congénita al dolor (NTRK1, SCN9A, PRDM12), la mayoría de ellas recesivas, mientras que HSAN1 es dominante.
Qué cambia un diagnóstico
Protección frente a lesiones, quemaduras e infecciones no percibidas, control de los síntomas autonómicos y estudio de portadores para familiares (la disautonomía familiar se incluye en el cribado de portadores para la población judía asquenazí).
Genes analizados
También conocida como
hereditary sensory autonomic neuropathy; hereditary sensory neuropathy; hereditary sensory peripheral neuropathy; HSAN
Incluye 32 subtipos relacionados ↓Ocultar subtipos ↑
- cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
- channelopathy-associated congenital insensitivity to pain, autosomal recessive
- cold-induced sweating syndrome
- cold-induced sweating syndrome - hyperthermia spectrum
- Cold-induced sweating syndrome 1
- cold-induced sweating syndrome 2
- congenital insensitivity to pain
- congenital insensitivity to pain syndrome, Marsili type
- congenital insensitivity to pain with hyperhidrosis
- congenital insensitivity to pain with severe intellectual disability
- congenital insensitivity to pain-hypohidrosis syndrome
- hereditary sensory and autonomic neuropathy type 1
- hereditary sensory and autonomic neuropathy type 2
- hereditary sensory and autonomic neuropathy type 4
- hereditary sensory and autonomic neuropathy type 5
- hereditary sensory and autonomic neuropathy type 6
- hereditary sensory and autonomic neuropathy type 7
- hereditary sensory neuropathy X-linked
- hereditary sensory neuropathy-deafness-dementia syndrome
- hereditary spastic paraplegia 49
- neuropathy, hereditary sensory and autonomic, type 1A
- neuropathy, hereditary sensory and autonomic, type 1C
- neuropathy, hereditary sensory and autonomic, type 2A
- neuropathy, hereditary sensory and autonomic, type 2B
- neuropathy, hereditary sensory, atypical
- neuropathy, hereditary sensory, type 1D
- neuropathy, hereditary sensory, type 1F
- neuropathy, hereditary sensory, type 2C
- PERCHING syndrome
- polyneuropathy-hand defect syndrome
- Riley-Day syndrome
- X-linked hereditary sensory and autonomic neuropathy with hearing loss
