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Query: UMLS:C0027066 (myoclonus)
 4,275 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

Apart from tremor and restless-legs syndrome, abnormal involuntary movements are uncommon in patients with multiple sclerosis. A review of the literature in multiple sclerosis reveals case reports of a variety of other movement disorders such as myoclonus, spasmodic torticollis, paroxysmal dystonia, chorea, ballism, and parkinsonism. This chapter presents a thorough review of these movement disorders in multiple sclerosis patients and provides readers with potential underlying pathogenetic mechanisms.
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PMID:Movement disorders in patients with multiple sclerosis. 2149 90

This review summarizes the current empirical and clinical literature on benign paroxysmal movement disorders in infancy most relevant to practitioners. Paroxysmal benign movement disorders are a heterogeneous group of movement disorders characterized by their favourable outcome. We pay special attention to the recognition and management of these abnormal motor conditions strongly suggestive of epileptic disorders. They include: neonatal jitteriness; benign neonatal sleep myoclonus; benign paroxysmal tonic upgaze; paroxysmal tonic downgaze, benign paroxysmal torticollis and benign polymorphous movement disorder of infancy.
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PMID:Transient benign paroxysmal movement disorders in infancy. 2936 36

Patients with essential tremor, vocal tremor, torticollis, myoclonus-dystonia and posthypoxic myoclonus often benefit in a surprisingly rapid and robust manner from ingestion of a modest amount of alcohol (ethanol). Despite considerable investigation, the mechanism of ethanol's ability to produce this effect remains a mystery. In this paper, we review the pharmacology of ethanol and its analogue GHB (or sodium oxybate), summarize the published literature of alcohol-responsive hyperkinetic movement disorders, and demonstrate videos of patients we have treated over the last fifteen years with either an ethanol challenge or with chronic sodium oxybate therapy. We then propose a novel explanation for this phenomenon-namely, that ingestion of modest doses of ethanol (or sodium oxybate) normalizes the aberrant motor networks underling these disorders. We propose that alcohol and its analogues improve clinical symptoms and their physiologic correlate by restoring the normal firing pattern of the major outflow pathways of the cerebellum (the Purkinje cells and deep cerebellar nuclei), We present evidence to support this hypothesis in animal models and in affected patients, and suggest future investigations to test this model.
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PMID:Alcohol-Responsive Hyperkinetic Movement Disorders-a Mechanistic Hypothesis. 3317 85


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