DYT11: Myoclonus dystonia: management
Evidence-based neurology checklist on dyt11: myoclonus dystonia: management: 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 Other reported genetic mutations…
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
Other reported genetic mutations
Electromyogram (EMG)
Magnetic resonance imaging (MRI) brain
Treatment
Outcome
Synonym
References
- Ritz K, Gerrits MCF, Foncke EMJ, et al. Myoclonus-dystonia: clinical and genetic evaluation of a large cohort. JNNP 2009; 80:653-658.
- Muller U. The monogenic primary dystonias. Brain 2009; 132:2005-2025.
- Albanese A, Asmus F, Bhatia KP, et al. EFNS guidelines on diagnosis and treatment of primary dystonias. Eur J Neurol 2011; 18:5-18.
- Ledoux MS, Dauer WT, Warner TT. Emerging common molecular pathways for primary dystonia. Mov Disord 2013; 28:968-981.
- Tanabe LM, Kim CE, Alagem N, Dauer WT. Primary dystonia: molecules and mechanisms. Nat Rev Neurol 2009; 5:598-609.
- And 12 more. Subscribe to see the full list
Related checklists
- DYT1: Early onset primary dystonia
- DYT2: Autosomal recessive torsion dystonia
- DYT3: X-linked dystonia (Lubag)
- DYT4: Whispering dysphonia
- DYT5: Dopa-responsive dystonia (DRD): clinical features
- DYT5: Dopa-responsive dystonia (DRD): variants and differentials
- DYT5: Dopa-responsive dystonia (DRD): management
- DYT6: Adult onset mixed torsion dystonia
- DYT7: Focal adult onset torsion dystonia
- DYT8: Paroxysmal non-kinesigenic dyskinesia 1 (PNKD1)
- DYT9: Choreoathetosis/spasticity, episodic (CSE)
- DYT10: Paroxysmal kinesigenic dyskinesia 1 (PKD1)
- DYT11: Myoclonus dystonia: clinical features
- DYT12: Rapid onset dystonia-parkinsonism (RDP)
- DYT13: Familial cranio-cervical dystonia
- DYT14: Dystonia 14
