1. Myoclonic dystonia.
- Author
-
Pueschel SM, Friedman JH, and Shetty T
- Subjects
- Adult, Biopsy, Cerebellum physiopathology, Drug Therapy, Combination, Dystonia diagnosis, Dystonia physiopathology, Dystonia rehabilitation, Epilepsies, Myoclonic diagnosis, Epilepsies, Myoclonic genetics, Epilepsies, Myoclonic physiopathology, Epilepsies, Myoclonic rehabilitation, Gait physiology, Humans, Magnetic Resonance Imaging, Male, Muscles pathology, Myoclonus diagnosis, Myoclonus physiopathology, Myoclonus rehabilitation, Neurologic Examination drug effects, Posture physiology, Rehabilitation, Vocational, Tomography, X-Ray Computed, Trihexyphenidyl administration & dosage, Valproic Acid administration & dosage, Diseases in Twins genetics, Dystonia genetics, Myoclonus genetics
- 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.
- Published
- 1992
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