Familial dyskinesia with facial myokymia

Definition:

Familial dyskinesia with facial myokymia (FDFM) is an autosomal dominant disorder characterized by paroxysmal chorea, dystonia, and facial myokymia. Missense mutations in ADCY5 were reported as the cause of FDFM. ADCY5 is one of membrane-bound adenylyl cyclases. ADCY5 expression is particularly high in striatum and myocardium.

References:

[1]. Ying-Zhang Chen, et al. Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5. Arch Neurol. 2012 May;69(5):630-5. [Content Brief]

[2]. Ying-Zhang Chen, et al. Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia. Ann Neurol. 2014 Apr;75(4):542-9. [Content Brief]

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