Pärilik sensoorne ja autonoomne neuropaatia
Familiaarse düsautonoomia kandjate sagedus on aškenazi juudi päritoluga inimestel umbes 1 30-st kuni 1 36-st.
Neuropaatiate rühm, sh familiaarne düsautonoomia (ELP1), HSAN1 (SPTLC1/SPTLC2), HSAN2 (WNK1, RETREG1) ja kaasasündinud valutundlikkuse puudumine (NTRK1, SCN9A, PRDM12). Enamik neist on retsessiivse pärilikkusega, HSAN1 on dominantne.
Mida diagnoos muudab
Kaitse märkamatute vigastuste, põletuste ja infektsioonide eest, autonoomsete sümptomite juhtimine ning sugulaste kandjatestimine (familiaarne düsautonoomia kuulub aškenazi juudi päritoluga inimeste kandjaskriiningusse).
Analüüsitud geenid
Tuntud ka nimetustena
hereditary sensory autonomic neuropathy; hereditary sensory neuropathy; hereditary sensory peripheral neuropathy; HSAN
Hõlmab 32 seotud alatüüpi ↓Peida alatüübid ↑
- 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
