DYT31: Dystonia 31
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
DYT31: Dystonia 31. This results from mutations in the AOPEP gene. The transmission is autosomal recessive. Fully referenced neurology checklist.
Genetics
- This results from mutations in the AOPEP gene
- The transmission is autosomal recessive
- The onset age is from childhood to young adulthood
Clinical features
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References
- Zech M, Kumar KR, Reining S, et al. Biallelic AOPEP loss-of-function variants cause progressive dystonia with prominent limb involvement. Mov Disord 2022; 37:137-147.
- Garavaglia B, Vallian S, Romito LM, et al. AOPEP variants as a novel cause of recessive dystonia: generalized dystonia and dystonia-parkinsonism. Parkinsonism Relat Disord 2022; 97:52-56.
- Lin J, Li C, Cui Y, et al. Mutation screening of AOPEP variants in a large dystonia cohort. J Neurol 2023; 270:3225-3233.
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
- DYT32: Dystonia 32
- DYT33: Dystonia 33
- DYT34: Dystonia 34
- DYT35: Dystonia 35
