From the Research
ACDY5 presentation typically involves multiple neurological symptoms, including dystonia, chorea, myoclonus, and characteristic facial dyskinesia, with a paroxysmal nature triggered by factors like stress, caffeine, or alcohol, as reported in the most recent study 1.
Key Features of ACDY5 Presentation
- Dystonia, chorea, myoclonus, and facial dyskinesia are common symptoms
- Paroxysmal episodes can be triggered by stress, caffeine, or alcohol
- Sleep disturbances and developmental delay may also be present
- The condition is caused by mutations in the ADCY5 gene, which encodes adenylate cyclase 5
Treatment and Management
- Treatment is primarily symptomatic, with medications like benzodiazepines (particularly clonazepam at 0.5-2mg daily) and tetrabenazine (25-100mg daily in divided doses) sometimes providing partial relief
- Caffeine avoidance is recommended as it can trigger symptoms
- Deep brain stimulation may be considered in severe cases
- Genetic counseling is important as ADCY5-related disorders follow an autosomal dominant inheritance pattern, though many cases arise from de novo mutations, as noted in 2 and 3
Diagnosis and Genetic Considerations
- Genetic testing can confirm the diagnosis of ACDY5-related disorders
- Somatic mosaicism and mode of inheritance can influence the phenotype, as discussed in 4 and 3
- Recurrent mutations suggest particular functional importance of residues in disease pathogenesis, highlighting the need for careful consideration of genetic factors in diagnosis and management.