DYT11: Myoclonus dystonia: management

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

DYT11: Myoclonus dystonia: management. This is usually caused by mutations in the epsilon sarcoglycan (SGCE) gene. Fully referenced neurology checklist.

Genetics

  • This is usually caused by mutations in the epsilon sarcoglycan (SGCE) gene
  • This is on chromosome 7
  • The transmission is autosomal dominant

Epsilon sarcoglycan (SGCE) gene mutation

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Other reported genetic mutations

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Electromyogram (EMG)

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Magnetic resonance imaging (MRI) brain

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Treatment

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Outcome

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Synonym

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References

  1. Ritz K, Gerrits MCF, Foncke EMJ, et al. Myoclonus-dystonia: clinical and genetic evaluation of a large cohort. JNNP 2009; 80:653-658.
  2. Muller U. The monogenic primary dystonias. Brain 2009; 132:2005-2025.
  3. Albanese A, Asmus F, Bhatia KP, et al. EFNS guidelines on diagnosis and treatment of primary dystonias. Eur J Neurol 2011; 18:5-18. 
  4. Ledoux MS, Dauer WT, Warner TT. Emerging common molecular pathways for primary dystonia. Mov Disord 2013; 28:968-981. 
  5. Tanabe LM, Kim CE, Alagem N, Dauer WT. Primary dystonia: molecules and mechanisms. Nat Rev Neurol 2009; 5:598-609.
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