Atassia cerebellare autosomica dominante
Autosomica dominante
Un gruppo di atassie a trasmissione dominante, tra cui SCA1, SCA2, SCA3 (malattia di Machado-Joseph), SCA6, SCA7, SCA17, SCA27B e DRPLA, causate da espansioni di sequenze ripetute o varianti puntiformi in geni quali ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP, ATN1 e FGF14.
Cosa cambia con una diagnosi
Consulenza genetica e test presintomatico per i familiari, fisioterapia e gestione dei sintomi; alcune forme, come la SCA27B, possono rispondere a terapie farmacologiche specifiche.
Geni analizzati
Conosciuto anche come
ADCA; Autosomal Dominant Hereditary Ataxia; autosomal dominant spinocerebellar ataxia; cerebellar ataxia, autosomal dominant; Pierre Marie cerebellar ataxia (formerly); SCA; spinocerebellar ataxia
Include 64 sottotipi correlati ↓Nascondi i sottotipi ↑
- 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
