ADCY5-related dyskinesia
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
ADCY5-related dyskinesia. This is caused by mutations in the adenyly (adenylate) cyclase 5 (ADC5) gene. Fully referenced neurology checklist.
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
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Features of dyskinesia
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Other associated movement disorders
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Associated neurological features
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Exacerbating factors
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Differential diagnoses
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Investigations
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Treatment
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References
- Chang FC, Westenberger A, Dale RC, et al. Phenotypic insights into ADCY5-associated disease. Mov Disord 2016; 31:1033-1040.
- 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.
- 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.
- Barrett MJ, Williams ES, Chambers C, Dhamija R. Autosomal recessive inheritance of ADCY5-related generalized dystonia and myoclonus. Neurol Genet 2017; 3:193.
- 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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