Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Myoclonic dystonia is mainly described as a familial entity. Nevertheless it is also a syndrome. In the first part of this review we discuss the diagnostic difficulties of myoclonic dystonia which are mainly explained by the numerous denominations. In a second part, these entities (essential myoclonus, benign hereditary chorea, myoclonic dystonia with dramatic response to alcohol) are described, then grouped into one single disease, namely inherited myoclonic dystonia, To date, only benign hereditary chorea family, mapped to chromosome 14q, is still considered as a separate disease. In a third part, the main causes of myoclonic dystonia syndrome are described, with special focus on inherited myoclonic dystonia or myoclonus-dystonia. Numerous mutations are described on the epsilon-sarcoglycan gene located on chromosome 7q21. The function of epsilon-sarcoglycan is still unknown. The clinical features are predominant alcohol-sensitive myoclonus (neck, arms) with mild and more restrained dystonia (torticollis, writer's cramp). Obsessive-compulsive disorder may be associated with the disease. Promising treatments may be medical (gamma-hydroxybutyric acid) and surgical (deep brain stimulation) although therapeutic abstention may be possible owing to the frequent benign course of the disease.
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PMID:[Myoclonic dystonia]. 1461 78

Sodium oxybate is currently approved in the United States exclusively for the treatment of cataplexy in narcoleptic patients. In a prior article published in this journal, we reported a patient with severe posthypoxic myoclonus whose myoclonus improved with ethanol and also with treatment with sodium oxybate. We extend this preliminary observation to five other patients with ethanol-responsive movement disorders in an open-label, dose-titration, add-on, 8-week trial. All five patients (one with severe alcohol-responsive posthypoxic myoclonus, two with epsilon-sarcoglycan-linked myoclonus-dystonia, and two with essential tremor) experienced improvement from baseline of 50% or greater as measured by blinded videotape review. Tolerability was satisfactory, with dose-dependent sedation as the most common side effect. Further studies of this drug in hyperkinetic movement disorders are warranted.
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PMID:A pilot tolerability and efficacy trial of sodium oxybate in ethanol-responsive movement disorders. 1598 20