常染色体显性小脑性共济失调
상염색체 우성
一组常染色体显性遗传的共济失调，包括SCA1、SCA2、SCA3(马查多-约瑟夫病)、SCA6、SCA7、SCA17、SCA27B和DRPLA，由ATXN1、ATXN2、ATXN3、CACNA1A、ATXN7、TBP、ATN1和FGF14等基因中的重复序列扩增或点变异引起。
진단이 달라지는 점
遗传咨询及为亲属提供症状前检测、物理治疗和症状管理；某些类型(如SCA27B)可能对特定药物有反应。
분석 유전자
다른 명칭
ADCA; Autosomal Dominant Hereditary Ataxia; autosomal dominant spinocerebellar ataxia; cerebellar ataxia, autosomal dominant; Pierre Marie cerebellar ataxia (formerly); SCA; spinocerebellar ataxia
관련 하위 유형 64개 포함 ↓하위 유형 숨기기 ↑
- 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
