LAUSR

Adenylyl cyclase 5 (ADCY5) is 1 of 9 types of membrane-bound adenylyl cyclases that convert adenosine triphosphate (ATP) to pyrophosphate and cyclic adenosine-3 0 ,5 0 -monophosphate (cAMP), a second messenger mediating a range of cellular activities. 1 ADCY5 is expressed in the brain and myocardium. In the brain, it is highly expressed in the striatum, a region involved in the modulation of movements. 2 This anatomic speci fi city implies the impact of ADCY5 mutations speci fi cally on movements. Since the fi rst iden-ti fi cation of pathogenic ADCY5 gene mutation in 2012, the spectrum (genotypic and phenotypic) of ADCY5 related disorders is expanding further. To date, more than 70 cases (sporadic and familial) of genetically con fi rmed ADCY5 mutation-related movement disorders have been reported. Here we report a case of a dyskinetic child who had a rare mutation of the ADCY5 gene on genetic testing.