Lesser motor disability in adulthood: A ten-year follow-up of a dyskinetic patient with ADCY5 mutation

Broad phenotypic spectrum has been reported in hereditary dyskinesia associated with mutations in adenylate cyclase 5 gene (ADCY5, OMIM 606703). Medication was tried for the disease, including antiepiletpic drugs, propranolol, acetazolamide, trihexyphenidyl, and tetrabenazine, but their efficacy was limited [1]. Partial or moderate response to pallidal deep brain stimulation (DBS) has been reported in medication refractory cases [1,2]; however, therapeutic strategy in consideration of natural disease course remains to be elucidated in ADCY5-related dyskinesia.

from Journal of the Neurological Sciences https://ift.tt/2KmgtvQ