Synonyms
Myoclonus-dystonia-syndrome; Alcohol-responsive myoclonus; Essential myoclonus; Essential hereditary myoclonus; Paramyoclonus multiplex Friedreich; DYT11; DYT15; Myoclonic dystonia
Definition and Characteristics
Myoclonus-Dystonia (M-D) is a rare, early-onset movement disorder characterized by “lightning-like,” non-epileptic myoclonus and focal or segmental dystonia presenting mainly as cervical dystonia or writer’s cramp [1]. Many patients respond dramatically to alcohol ingestion. Psychiatric comorbidity with alcohol and substance abuse or anxiety disorders and phobias is common [2]. The use of the term myoclonic dystonia (MIM #159900) should be limited to idiopathic dystonias with jerky movements only in the body parts displaying dystonic posturing.
Following an autosomal-dominant (AD) inheritance pattern with reduced penetrance after maternal inheritance, heterozygous epsilon-sarcoglycan (SGCE) [3,4] mutations cause M-D. This transmission-specific reduction of penetrance...
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Asmus F, Gasser T (2004) Adv Neurol 94:113–119
Saunders-Pullman R, Shriberg J, Heiman G et al. (2002) Neurology 58:242–245
Zimprich A, Grabowski M, Asmus F et al. (2001) Nat Genet 29:66–69
Asmus F, Zimprich A, Tezenas Du MS et al. (2002) Ann Neurol 52:489–492
Kupsch A, Kuehn A, Klaffke S et al. (2003) J Neurol 250(Suppl 1):147–152
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Asmus, F., Gasser, T. (2009). Myoclonus-Dystonia. In: Lang, F. (eds) Encyclopedia of Molecular Mechanisms of Disease. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-29676-8_3130
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DOI: https://doi.org/10.1007/978-3-540-29676-8_3130
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-540-67136-7
Online ISBN: 978-3-540-29676-8
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