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Мозочкова атаксія, повязана з PUM1

ORPHA:642747· ICD-10 G11.2· PUM1-related cerebellar ataxia

Визначення(English summary)

A rare hereditary ataxia characterized by adult onset of slowly progressive cerebellar degeneration with gait ataxia, dysmetria, dysarthria, and in some cases diplopia. Cognitive functions are normal, and seizures are absent. Magnetic resonance imaging reveals mild atrophy of the cerebellar vermis.

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