dyskinesia with orofacial involvement, autosomal dominant
A rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness.
MONDO:0005395
movement disorder
is_a
MONDO:0031115
dyskinesia with orofacial involvement
is_a
MONDO:0100545
hereditary neurological disease
is_a
ADCY5-related dyskinesia
related
FDFM
exact
dyskinesia, familial, with facial myokymia
exact