Arvelig sensorisk og autonom neuropati
Bærerfrekvensen for familiær dysautonomi er cirka 1 ud af 30 til 1 ud af 36 hos personer med askenasisk jødisk herkomst.
En gruppe neuropatier, herunder familiær dysautonomi (ELP1), HSAN1 (SPTLC1/SPTLC2), HSAN2 (WNK1, RETREG1) og medfødt smerteufølsomhed (NTRK1, SCN9A, PRDM12). De fleste er recessive, mens HSAN1 er dominant.
Hvad en diagnose ændrer
Beskyttelse mod ubemærkede skader, forbrændinger og infektioner, håndtering af autonome symptomer og bærertest for slægtninge (familiær dysautonomi indgår i screening for bærere blandt askenasiske jøder).
Analyserede gener
Også kendt som
hereditary sensory autonomic neuropathy; hereditary sensory neuropathy; hereditary sensory peripheral neuropathy; HSAN
Omfatter 32 beslægtede undertyper ↓Skjul undertyper ↑
- 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
