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Інфантильна генералізована дискінезія з орофаціальним ураженням

ORPHA:494526· ICD-10 G24.8· Infantile-onset generalized dyskinesia with orofacial involvement

Визначення(English summary)

A rare hyperkinetic movement disorder characterized by delayed motor development and infantile onset of axial hypotonia and a generalized hyperkinetic movement disorder, principally with dyskinesia of the limbs and trunk, and facial involvement including orolingual dyskinesia, drooling, and dysarthria. Variable hyperkinetic movements may include a jerky quality, intermittent chorea and ballismus. Brain imaging is normal and cognitive performance is typically preserved.

Поширеність
<1 / 1 000 000
Успадкування
Autosomal recessive
Вік початку
Infancy