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Myoclonic dystonia
Classification and external resources
OMIM 159900
DiseasesDB 31321

Myoclonic distonia or Myoclonus-dystonia syndrome is a rare syndrome having several subforms each traced to a different gene. The uniting feature is dystonia, but there are also rapid jerky movements resembling myoclonus.

Ethanol often ameliorates the symptoms very well, and because of it the syndrome is also called "Alcohol-responsive dystonia"; alcohol may be substituted by benzodiazepines that work through the same mechanism, such as clonazepam.

Myoclonus Dystonia is in most cases caused by mutations in the epsilon sarcoglycan gene (SGCE). The disease is dominantly inherited, that means that half of the children inherit the mutation. SGCE is an imprinted gene[1] that is only the paternal allele is expressed. Because of this only children who inherit the mutation from the father will actually suffer from the disease. If the mutated allele is inherited from the mother the child will most probably stay healthy.

References

  1. ^ Grabowski M, Zimprich A, Lorenz-Depiereux B, et al. (February 2003). "The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted". Eur. J. Hum. Genet. 11 (2): 138–44. doi:10.1038/sj.ejhg.5200938. PMID 12634861. http://dx.doi.org/10.1038/sj.ejhg.5200938.  

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