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Спастична атаксія з вродженим міозом

ORPHA:1182· ICD-10 G11.4· Spastic ataxia with congenital miosis

Визначення(English summary)

Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present.

Поширеність
<1 / 1 000 000
Успадкування
Autosomal dominant
Вік початку
Adolescent, Childhood, Infancy, Neonatal