ADCY5-related dyskinesia

Genetics

• This is caused by mutations in the adenyly (adenylate) cyclase 5 (ADC5) gene
• The gene is on chromosome 3
• The transmission is usually autosomal dominant but it may also be recessive

ADCY5 mutation related syndromes

Features of dyskinesia

Other associated movement disorders

Associated neurological features

Exacerbating factors

Differential diagnoses

Investigations

Treatment

References

1. Chang FC, Westenberger A, Dale RC, et al. Phenotypic insights into ADCY5-associated disease. Mov Disord 2016; 31:1033-1040.
2. Carapito R, Paul N, Untrau M, et al. A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia. Mov Disord 2015; 30:423-427. 
3. Chen YZ, Matsushita MM, Robertson P, et al. Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5. Arch Neurol 2012; 69:630-635. 
4. Barrett MJ, Williams ES, Chambers C, Dhamija R. Autosomal recessive inheritance of ADCY5-related generalized dystonia and myoclonus. Neurol Genet 2017; 3:193. 
5. Mencacci NE, Erro R, Wiethoff S, et al. ADCY5 mutations are another cause of benign hereditary chorea. Neurology 2015; 85:80-88.
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