DYT15: Myoclonic dystonia 15

Evidence-based neurology checklist on dyt15: myoclonic dystonia 15: Genetics This is caused by mutations in Chromosome 18 The transmission is autosomal dominant It causes childhood onset variable dystonia Clinical features

Genetics

  • This is caused by mutations in Chromosome 18
  • The transmission is autosomal dominant
  • It causes childhood onset variable dystonia

Clinical features

References

  1. Muller U. The monogenic primary dystonias. Brain 2009; 132:2005-2025.
  2. Albanese A, Asmus F, Bhatia KP, et al. EFNS guidelines on diagnosis and treatment of primary dystonias. Eur J Neurol 2011; 18:5-18. 
  3. Ledoux MS, Dauer WT, Warner TT. Emerging common molecular pathways for primary dystonia. Mov Disord 2013; 28:968-981.
  4. Grimes DA, Bulman D, George-Hyslop PS, Lang AE. Inherited myoclonus-dystonia: evidence supporting genetic heterogeneity. Mov Disord 2001; 16:106-110.
  5. Grimes DA, Han F, Lang AE, St George-Hyssop P, Racacho L, Bulman DE. A novel locus for inherited myoclonus-dystonia on 18p11. Neurology 2002; 59:1183-1186.

Related checklists

Loading...