Myoclonus and Myoclonus-Dystonias

Christine Klein*

*Corresponding author for this work
30 Citations (Scopus)


Myoclonus is characterized by rapid muscle jerks, while dystonia is defined as sustained twisting and repetitive movements, resulting in abnormal postures. In myoclonus dystonia (M-D), a predominantly myoclonic syndrome is combined with dystonic features. Linkage of autosomal dominantly inherited M-D is demonstrated to a locus on chromosome 7q, designated DYTll, followed by the recent identification of mutations in the 8-sarcoglycan gene (SGCE). However, SGCE clearly represents the major M-D gene. The function of its encoded protein, e-sarcoglycan, is largely unknown. It is a member of the sarcoglycan family, usually involved in muscular dystrophies, while M-D is a non degenerative disorder of the central nervous system. The drugs tested without any good effect on the involuntary movements are-amphetamine, heroin, carbamazepine, propranolol, chlorazepate, and haloperidol. Finally, neuro stimulation of the ventral intermediate thalamic nucleus is shown to be a safe and efficacious treatment in a patient with medically intractable and progressing M-D.

Original languageEnglish
Title of host publicationGenetics of Movement Disorders
Number of pages21
PublisherElsevier Inc.
Publication date2003
ISBN (Print)9780125666527
Publication statusPublished - 2003


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