Essential myoclonus

Ivan Donaldson, C. David Marsden, Susanne A. Schneider and Kailash P. Bhatia

in Marsden's Book of Movement Disorders

Published on behalf of Oxford University Press

ISBN: 9780192619112
Published online January 2012 | e-ISBN: 9780199698103 | DOI:
Essential myoclonus

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The term ‘essential myoclonus’ refers to a disorder of unknown aetiology in which myoclonus is essentially the only neurological abnormality. Essential myoclonus appears to be very rare. There are some historical reports; however, what exactly was wrong with the original patients is not clear. On the other hand, many patients with predominant myoclonus (which may have been called essential myoclonus) have been found to also have features of dystonia and this disorder has been classified as myoclonus dystonia which is in many (but not all) cases due to mutations of the epsilon sarcoglycan gene on chromosome 7. On the other hand, there is some confusion in the literature with juvenile and progressive myoclonic epilepsies, but again follow-up genetic data are in most cases not available for the original families.

Chapter.  9364 words.  Illustrated.

Subjects: Neurology

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