What is the ADCY5 Gene Mutation?
A mutation in the ADCY5 gene, results in ADCY5-related dyskinesia, a motion disorder that causes involuntary muscle movement such as tics and spasms. With the small group of patients identified there is broad variation of how individuals are affected. The disorder’s onset ranges from infant to late adolescent age. Infants with severe cases may experience a delay in motor milestones.
ADCY5-related dyskinesia is likely under-recognized or misdiagnosed as another motion disorder such as Cerebral Palsy. At this point, because of the low number of patients that have been identified, it is challenging for researchers and clinicians to characterize the disease. Currently diagnosis can only be achieved through genetic testing and there are inadequate medicines available to treat or cure patients. As more individuals are gathered through a registry, faster ways toward diagnosis and treatments may be determined.