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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