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- Myoclonic_dystonia abstract "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 so 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 loss-of-function-mutations in the epsilon sarcoglycan gene (SGCE). The disease is dominantly inherited: there is a 50% chance that a child will inherit the mutation if one parent has it. However, SGCE is an imprinted gene, and in fact only the paternal allele is expressed. That is, 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.".
- Myoclonic_dystonia diseasesdb "31321".
- Myoclonic_dystonia omim "159900".
- Myoclonic_dystonia wikiPageExternalLink NBK1414.
- Myoclonic_dystonia wikiPageID "20945667".
- Myoclonic_dystonia wikiPageRevisionID "600828410".
- Myoclonic_dystonia caption "Showing the movement disorder Myoclonus Dystonia. It's a mutation in the epsilon sarcoglycan gene. Exactly at Stop-Codon in Exon 3 R97X heterozygot".
- Myoclonic_dystonia diseasesdb "31321".
- Myoclonic_dystonia genereviewsname "Myoclonus-Dystonia".
- Myoclonic_dystonia genereviewsnbk "NBK1414".
- Myoclonic_dystonia hasPhotoCollection Myoclonic_dystonia.
- Myoclonic_dystonia name "Myoclonic dystonia".
- Myoclonic_dystonia omim "159900".
- Myoclonic_dystonia subject Category:Extrapyramidal_and_movement_disorders.
- Myoclonic_dystonia type Abstraction100002137.
- Myoclonic_dystonia type Attribute100024264.
- Myoclonic_dystonia type Condition113920835.
- Myoclonic_dystonia type Disease114070360.
- Myoclonic_dystonia type IllHealth114052046.
- Myoclonic_dystonia type Illness114061805.
- Myoclonic_dystonia type PathologicalState114051917.
- Myoclonic_dystonia type PhysicalCondition114034177.
- Myoclonic_dystonia type State100024720.
- Myoclonic_dystonia type Disease.
- Myoclonic_dystonia type AilmentCondition.
- Myoclonic_dystonia type Situation.
- Myoclonic_dystonia comment "Myoclonic distonia or Myoclonus-dystonia syndrome is a rare syndrome having several subforms each traced to a different gene.".
- Myoclonic_dystonia label "Myoclonic dystonia".
- Myoclonic_dystonia label "Миоклоническая дистония".
- Myoclonic_dystonia sameAs m.05b3jcl.
- Myoclonic_dystonia sameAs Q4295390.
- Myoclonic_dystonia sameAs Q4295390.
- Myoclonic_dystonia sameAs Myoclonic_dystonia.
- Myoclonic_dystonia wasDerivedFrom Myoclonic_dystonia?oldid=600828410.
- Myoclonic_dystonia isPrimaryTopicOf Myoclonic_dystonia.
- Myoclonic_dystonia name "Myoclonic dystonia".