Rare Disease Report

ADCY5.Org - its Origin and Future

NOVEMBER 16, 2016
Gay and Steve Grossman

Gay and Steve Grossman talk about the origins of ADCY5.org.
Dyskinesia linked to a mutation in the adenylyl cyclase V gene (ADCY5) is an extremely rare disease and it is only beginning to be understood. 
Symptoms of ADCY5-related dyskinesia present in infancy to late adolescence and vary in severity in the small number of cases identified to date. Symptoms include episodes of abnormal movements affecting the limbs, face, and/or neck, and these symptoms are exacerbated by anxiety. In mild cases, the abnormal movements minimally affect function but can be socially debilitating, whereas more severe cases may affect the ability to ambulate, leading to confinement in a wheelchair. Treatment with medication approved for other movement disorders has shown variable effectiveness in suppressing symptoms. Affected individuals have normal intellect and life span.
For more information, visit www.adcy5.org

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