DYT19: Paroxysmal kinesigenic dyskinesia 2 (PKD2)
Evidence-based neurology checklist on dyt19: paroxysmal kinesigenic dyskinesia 2 (pkd2): Genetics This is caused by mutations in chromosome 16 The transmission is autosomal dominant It causes childhood onset dystonia and choreoathetosis Clinical features Synonym
Genetics
- This is caused by mutations in chromosome 16
- The transmission is autosomal dominant
- It causes childhood onset dystonia and choreoathetosis
Clinical features
Synonym
References
- 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.
- Valente EM, Spacey SD, Wali GM, et al. A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16. Brain 2000; 123:2040-2045.
- Spacey S. D, Valente E-M, Wali GM, et al. Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: evidence for a third EKD gene. Mov Disord 2002; 17:717-725.
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Related checklists
- DYT15: Myoclonic dystonia 15
- DYT16: Autosomal recessive dystonia-parkinsonism
- DYT17: Early onset autosomal recessive dystonia
- DYT18: Paroxysmal exercise-induced dyskinesia (PED)
- DYT20: Paroxysmal non-kinesigenic dyskinesia 2 (PNKD2)
- DYT21: Late onset dystonia
- DYT22: Dystonia 22
- DYT23: Dystonia 23
- DYT24: Dystonia 24
- DYT25: Cervical dystonia with local spread
- DYT26: Myoclonic dystonia 26
- DYT27: Dystonia 27
- DYT28: Dystonia 28
- DYT29: Dystonia 29
- DYT30: Dystonia 30
- DYT31: Dystonia 31
- DYT32: Dystonia 32
- DYT33: Dystonia 33
- DYT34: Dystonia 34
- DYT35: Dystonia 35
