Autosomal Dominant Cerebellar Ataxia
Autozomálně dominantní
A group of dominantly inherited ataxias, including SCA1, SCA2, SCA3 (Machado-Joseph disease), SCA6, SCA7, SCA17, SCA27B and DRPLA, caused by repeat expansions or point variants in genes such as ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP, ATN1 and FGF14.
Co se diagnózou změní
Genetic counselling and presymptomatic testing for relatives, physiotherapy and symptom management; some forms, such as SCA27B, may respond to specific medication.
Analyzované geny
Známé také jako
ADCA; Autosomal Dominant Hereditary Ataxia; autosomal dominant spinocerebellar ataxia; Pierre Marie cerebellar ataxia (formerly); SCA; spinocerebellar ataxia
Zahrnuje 64 příbuzných podtypů ↓Skrýt podtypy ↑
- autosomal dominant cerebellar ataxia type I
- autosomal dominant cerebellar ataxia type III
- autosomal dominant cerebellar ataxia type IV
- autosomal dominant cerebellar ataxia, deafness and narcolepsy
- cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
- cerebellar dysfunction with variable cognitive and behavioral abnormalities
- dentatorubral-pallidoluysian atrophy
- GRID2-related autosomal dominant spinocerebellar ataxia
- Machado-Joseph disease
- Machado-Joseph disease type 1
- Machado-Joseph disease type 2
- Machado-Joseph disease type 3
- Machado-Joseph disease type 4
- neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism
- spinocerebellar ataxia 27A
- spinocerebellar ataxia 27B, late-onset
- spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits
- spinocerebellar ataxia 43
- spinocerebellar ataxia 44
- spinocerebellar ataxia 45
- spinocerebellar ataxia 46
- spinocerebellar ataxia 47
- spinocerebellar ataxia 48
- spinocerebellar ataxia 49
- spinocerebellar ataxia 50
- spinocerebellar ataxia 51
- spinocerebellar ataxia 52
- spinocerebellar ataxia 7
- spinocerebellar ataxia 9
- spinocerebellar ataxia type 1
- spinocerebellar ataxia type 10
- spinocerebellar ataxia type 11
- spinocerebellar ataxia type 12
- spinocerebellar ataxia type 13
- spinocerebellar ataxia type 14
- spinocerebellar ataxia type 15/16
- spinocerebellar ataxia type 17
- spinocerebellar ataxia type 18
- spinocerebellar ataxia type 19/22
- spinocerebellar ataxia type 2
- spinocerebellar ataxia type 20
- spinocerebellar ataxia type 21
- spinocerebellar ataxia type 23
- spinocerebellar ataxia type 25
- spinocerebellar ataxia type 26
- spinocerebellar ataxia type 27
- spinocerebellar ataxia type 28
- spinocerebellar ataxia type 29
- spinocerebellar ataxia type 30
- spinocerebellar ataxia type 31
- spinocerebellar ataxia type 32
- spinocerebellar ataxia type 34
- spinocerebellar ataxia type 35
- spinocerebellar ataxia type 36
- spinocerebellar ataxia type 37
- spinocerebellar ataxia type 38
- spinocerebellar ataxia type 4
- spinocerebellar ataxia type 40
- spinocerebellar ataxia type 41
- spinocerebellar ataxia type 42
- spinocerebellar ataxia type 5
- spinocerebellar ataxia type 6
- spinocerebellar ataxia type 8
- spinocerebellar degeneration with slow eye movements
