title: Myoclonic dystonia.
abstract: Myoclonic dystonia is a rare disorder that occurs in an hereditary and a sporadic form. The autosomal-dominantly inherited form is responsive to alcohol but not to other drugs. The sporadic form has been relatively resistant to drug treatment. We report a young man with myoclonic dystonia who displayed only little response to alcohol but improved significantly with a combination of sodium valproate for myoclonus and trihexiphenidyl hydrochloride for dystonia. His rehabilitation, however, was confounded by public authorities who thought the patient's appearance was indicative of drug use.
authors.affiliation: Department of Pediatrics, Rhode Island Hospital, Providence.
authors.forename: S M
authors.initials: SM
authors.lastname: Pueschel
authors.forename: J H
authors.initials: JH
authors.lastname: Friedman
authors.forename: T
authors.initials: T
authors.lastname: Shetty
mesh_terms: D000328:Adult; D001706:Biopsy; D002531:Cerebellum / Q000503:physiopathology; D004200:Diseases in Twins / Q000235:genetics; D004359:Drug Therapy, Combination; D004421:Dystonia / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology / Q000534:rehabilitation; D004831:Epilepsies, Myoclonic / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000534:rehabilitation; D005684:Gait / Q000502:physiology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009132:Muscles / Q000473:pathology; D009207:Myoclonus / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology / Q000534:rehabilitation; D009460:Neurologic Examination / Q000187:drug effects; D011187:Posture / Q000502:physiology; D012050:Rehabilitation, Vocational; D014057:Tomography, X-Ray Computed; D014282:Trihexyphenidyl / Q000008:administration & dosage; D014635:Valproic Acid / Q000008:administration & dosage
chemical_list: D014635:Valproic Acid; D014282:Trihexyphenidyl