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Сімейний кортикальний міоклонус

ORPHA:319189· ICD-10 G25.3· Familial cortical myoclonus

Визначення(English summary)

Familial cortical myoclonus is a rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent.

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