Myoclonus and Myoclonus-Dystonias
2003; Elsevier BV; Linguagem: Inglês
10.1016/b978-012566652-7/50042-3
Autores Tópico(s)Genetic Neurodegenerative Diseases
ResumoMyoclonus 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.
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