Хвороба Мачадо-Жозефа, тип 2
ORPHA:276241· ICD-10 G11.8· Machado-Joseph disease type 2
Визначення(English summary)
Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs.
- Поширеність
- Unknown
- Успадкування
- Autosomal dominant
- Вік початку
- Adult