NKX2-1

Familial dyskinesia with facial myokymia (ADCY5 gene)

A hyperkinetic disorder Familial dyskinesia with facial myokymia (also known as ADCY5-related dyskinesia) is an autosomal dominant mixed hyperkinetic disorder characterized by paroxysmal choreiform, myoclonic, and/or dystonic movements of the limbs and neck with frequent facial involvement. Onset is typically from infancy to late adolescence. The severity is variable, sometimes resulting in difficulty walking and

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