DYT8: Paroxysmal non-kinesigenic dyskinesia 1 (PNKD1)
Evidence-based neurology checklist on dyt8: paroxysmal non-kinesigenic dyskinesia 1 (pnkd1): Genetics and epidemiology This is caused by mutations in the myofibrillo-genesis regulator 1 (MR1) gene on chromosome 2 The transmission is autosomal dominant Onset may be in infancy, childhood, or adult…
Genetics and epidemiology
- This is caused by mutations in the myofibrillo-genesis regulator 1 (MR1) gene on chromosome 2
- The transmission is autosomal dominant
- Onset may be in infancy, childhood, or adult age
Major features
Characteristics of dystonic episodes
Associated features
Triggers for episodes
Treatment
Synonym
References
- Müller U. The monogenic primary dystonias. Brain 2009; 132:2005-2025.
- Bruno MK, Lee HY, Auburger GW, et al. Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia. Neurology 2007; 68:1782-1789.
- Fink JK, Rainer S, Wilkowski J, et al. Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q. Am J Hum Genet 1996; 59:140-145.
- Byrne E, White O, Cook M. Familial dystonic choreoathetosis with myokymia; a sleep responsive disorder. JNNP 1991; 54:1090-1092.
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
- DYT9: Choreoathetosis/spasticity, episodic (CSE)
- DYT10: Paroxysmal kinesigenic dyskinesia 1 (PKD1)
- DYT11: Myoclonus dystonia: clinical features
- DYT11: Myoclonus dystonia: management
- DYT12: Rapid onset dystonia-parkinsonism (RDP)
- DYT13: Familial cranio-cervical dystonia
- DYT14: Dystonia 14
