Autosomaalisesti resessiivinen pikkuaivoataksia
Autosomaalinen resessiivinen
Ryhmä resessiivisesti periytyviä ataksioita, joita aiheuttavat biallelliset variantit geeneissä, kuten RFC1, FXN, SACS, TTPA, SETX, APTX, PNKP, ANO10 ja SYNE1.
Mitä diagnoosi muuttaa
E-vitamiinin puutokseen liittyvää ataksiaa (TTPA) voidaan hoitaa E-vitamiinilisillä. Muita muotoja hoidetaan fysioterapialla ja oireenmukaisella hoidolla, ja sukulaisille voidaan tarjota kantajatestausta.
Analysoidut geenit
Tunnetaan myös nimellä
ARCA; cerebellar ataxia, autosomal recessive
Sisältää 91 siihen liittyvää alatyyppiä ↓Piilota alatyypit ↑
- abetalipoproteinemia
- acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
- ataxia - oculomotor apraxia type 4
- ataxia with oculomotor apraxia type 3
- autosomal recessive ataxia due to PEX10 deficiency
- autosomal recessive ataxia due to ubiquinone deficiency
- autosomal recessive ataxia, Beauce type
- autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome
- autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome
- autosomal recessive cerebellar ataxia with late-onset spasticity
- autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
- autosomal recessive congenital cerebellar ataxia
- autosomal recessive degenerative and progressive cerebellar ataxia
- autosomal recessive metabolic cerebellar ataxia
- autosomal recessive spinocerebellar ataxia 10
- autosomal recessive spinocerebellar ataxia 11
- autosomal recessive spinocerebellar ataxia 12
- autosomal recessive spinocerebellar ataxia 13
- autosomal recessive spinocerebellar ataxia 14
- autosomal recessive spinocerebellar ataxia 15
- autosomal recessive spinocerebellar ataxia 16
- autosomal recessive spinocerebellar ataxia 17
- autosomal recessive spinocerebellar ataxia 18
- autosomal recessive spinocerebellar ataxia 2
- autosomal recessive spinocerebellar ataxia 20
- autosomal recessive spinocerebellar ataxia 7
- autosomal recessive syndromic cerebellar ataxia
- CAMOS syndrome
- Cayman type cerebellar ataxia
- cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
- cerebellar ataxia, intellectual disability, and dysequilibrium
- cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
- cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2
- cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3
- cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
- cerebrotendinous xanthomatosis
- Charlevoix-Saguenay spastic ataxia
- COACH syndrome
- COACH syndrome 1
- COACH syndrome 2
- COACH syndrome 3
- congenital cataracts-facial dysmorphism-neuropathy syndrome
- congenital cerebellar ataxia due to RNU12 mutation
- early-onset cerebellar ataxia with retained tendon reflexes
- early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
- familial isolated deficiency of vitamin E
- FLVCR1-related retinopathy with or without ataxia
- Friedreich ataxia
- Friedreich ataxia 1
- Friedreich ataxia 2
- Friedreich ataxia with retained reflexes
- Gemignani syndrome
- infantile-onset autosomal recessive nonprogressive cerebellar ataxia
- Joubert syndrome 14
- Joubert syndrome 15
- Joubert syndrome 16
- Joubert syndrome 2
- Joubert syndrome 20
- Joubert syndrome 21
- Joubert syndrome 28
- Joubert syndrome 3
- Joubert syndrome 5
- Joubert syndrome 9
- Joubert syndrome and related disorders
- Joubert syndrome with Jeune asphyxiating thoracic dystrophy
- Joubert syndrome with ocular defect
- Joubert syndrome with oculorenal defect
- Lichtenstein-Knorr syndrome
- Marinesco-Sjogren syndrome
- mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
- peroxisome biogenesis disorder 4B
- posterior column ataxia-retinitis pigmentosa syndrome
- recessive mitochondrial ataxia syndrome
- RIDDLE syndrome
- short-rib thoracic dysplasia 14 with polydactyly
- spinocerebellar ataxia, autosomal recessive 22
- spinocerebellar ataxia, autosomal recessive 23
- spinocerebellar ataxia, autosomal recessive 24
- spinocerebellar ataxia, autosomal recessive 25
- spinocerebellar ataxia, autosomal recessive 26
- spinocerebellar ataxia, autosomal recessive 27
- spinocerebellar ataxia, autosomal recessive 28
- spinocerebellar ataxia, autosomal recessive 29
- spinocerebellar ataxia, autosomal recessive 30
- spinocerebellar ataxia, autosomal recessive 31
- spinocerebellar ataxia, autosomal recessive 32
- spinocerebellar ataxia, autosomal recessive 33
- spinocerebellar ataxia, autosomal recessive, with axonal neuropathy
- spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
- spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
- spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
