Спіноцеребеллярна атаксія, тип 3
ORPHA:98757· ICD-10 G11.8· Spinocerebellar ataxia type 3
Визначення(English summary)
Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations.
- Поширеність
- 1-9 / 100 000
- Успадкування
- Autosomal dominant
- Вік початку
- Adult, Childhood