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Спіноцеребеллярна атаксія, тип 38

ORPHA:423296· ICD-10 G11.8· Spinocerebellar ataxia type 38

Визначення(English summary)

Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy.

Поширеність
<1 / 1 000 000
Успадкування
Autosomal dominant
Вік початку
Adult