DYT33: Dystonia 33
Evidence-based neurology checklist on dyt33: dystonia 33: Genetics This results from mutations in the EIF2AK2 gene on chromosome 2 The transmission may be autosomal dominant or recessive Clinical features Magnetic resonance imaging (MRI) brain Treatment
Genetics
- This results from mutations in the EIF2AK2 gene on chromosome 2
- The transmission may be autosomal dominant or recessive
Clinical features
Magnetic resonance imaging (MRI) brain
Treatment
References
- Kuipers DJS, Mandemakers W, Lu CS, et al. EIF2AK2 missense variants associated with early onset generalized dystonia. Ann Neurol 2021; 89:485-497.
- Magrinelli F, Moualek D, Tazir M, et al. Heterozygous EIF2AK2 variant causes adolescence-onset generalized dystonia partially responsive to DBS. Mov Disord Clin Pract 2021; 9:268-271.
- Musacchio T, Zech M, Reich MM, Winkelmann J, Volkmann J. A recurrent EIF2AK2 missense variant causes autosomal-dominant isolated dystonia. Ann Neurol 2021; 89:1257-1258.
Related checklists
- DYT15: Myoclonic dystonia 15
- DYT16: Autosomal recessive dystonia-parkinsonism
- DYT17: Early onset autosomal recessive dystonia
- DYT18: Paroxysmal exercise-induced dyskinesia (PED)
- DYT19: Paroxysmal kinesigenic dyskinesia 2 (PKD2)
- 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
- DYT34: Dystonia 34
- DYT35: Dystonia 35
