ADCY5-related dyskinesia
نویسندگان
چکیده
منابع مشابه
Autosomal recessive inheritance of ADCY5-related generalized dystonia and myoclonus
Case report. A 27-year-old woman presented with a movement disorder. She was born full term. She walked at 18 months, and speech development was delayed. Involuntary movements were first noted at 3 years with walking and increased in amplitude over time. Dystonia was first diagnosed at age 3. She had frequent falls due to involuntary myoclonic movements in the setting of lower extremity dystoni...
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Rhabdomyolysis is a life threatening syndrome. It accounts for an estimated 8% to 15% of cases of acute renal failure and is associated with a mortality rate of 5%. In movement disorders, various causes of rhabdomyolysis have been reported including status dystonicus, myoclonus, generalized chorea and parkinsonism-hyperprexia syndrome in Parkinson's disease (PD). Levodopa-induced dyskinesia lea...
متن کاملPhenotypic insights into ADCY5‐associated disease
BACKGROUND Adenylyl cyclase 5 (ADCY5) mutations is associated with heterogenous syndromes: familial dyskinesia and facial myokymia; paroxysmal chorea and dystonia; autosomal-dominant chorea and dystonia; and benign hereditary chorea. We provide detailed clinical data on 7 patients from six new kindreds with mutations in the ADCY5 gene, in order to expand and define the phenotypic spectrum of AD...
متن کاملADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients
INTRODUCTION ADCY5 mutations have been recently identified as an important cause of early-onset hyperkinetic movement disorders. The phenotypic spectrum associated with mutations in this gene is expanding. However, the ADCY5 mutational frequency in cohorts of paediatric patients with hyperkinetic movement disorders has not been evaluated. METHODS We performed a screening of the entire ADCY5 c...
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ژورنال
عنوان ژورنال: Neurology
سال: 2015
ISSN: 0028-3878,1526-632X
DOI: 10.1212/wnl.0000000000002058