Autosomale recessieve cerebellaire ataxie
Autosomaal recessief
Een groep recessief overgeërfde ataxieën, veroorzaakt door biallelische varianten in genen zoals RFC1, FXN, SACS, TTPA, SETX, APTX, PNKP, ANO10 en SYNE1.
Wat een diagnose verandert
Ataxie met vitamine E-tekort (TTPA) kan worden behandeld met vitamine E-supplementen; andere vormen worden behandeld met fysiotherapie en symptoombestrijding, en aan familieleden kan een draagstertest worden aangeboden.
Geanalyseerde genen
Ook bekend als
ARCA; cerebellar ataxia, autosomal recessive
Bevat 91 gerelateerde subtypen ↓Subtypen verbergen ↑
- 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
