Familial dyskinesia with facial myokymia is an autosomal dominant movement disorder characterized by childhood onset of involuntary choreiform or dystonic movements that involve the limb and facial muscles. The severity is variable, but can result in difficulty walking and talking.
Genes:
ADCY5
Disorders:
Chorea, Dystonia
Clinical Utility:
Confirmation of a clinical diagnosis, Carrier testing in unaffected family members
