Dystonia: genetic causes
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Dystonia: genetic causes. This is caused by mutations in the torsinA (TOR1A) gene on chromosome 9. Fully referenced neurology checklist.
DYT1: Early onset primary dystonia
- This is caused by mutations in the torsinA (TOR1A) gene on chromosome 9
- The transmission is autosomal dominant with reduced penetrance
- It causes early onset pure dystonia
DYT2: Autosomal recessive torsion dystonia
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DYT3: X-linked dystonia (Lubag)
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DYT4: Whispering dysphonia
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DYT5: Dopa-responsive dystonia
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DYT6: Adult onset mixed torsion dystonia
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DYT7: Focal adult onset torsion dystonia
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DYT8: Paroxysmal non-kinesigenic dyskinesia 1 (PNKD1)
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DYT9: Choreoathetosis/spasticity, episodic (CSE)
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DYT10: Paroxysmal kinesigenic dyskinesia 1 (EKD1)
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DYT11: Myoclonus dystonia
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DYT12: Rapid-onset dystonia parkinsonism
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DYT13: Familial cranio-cervical dystonia
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DYT14: Dystonia 14
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DYT15: Myoclonic dystonia 15
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DYT16: Autosomal recessive dystonia-parkinsonism
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DYT17: Early onset autosomal recessive dystonia
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DYT18: Paroxysmal exercise-induced dyskinesia (PED)
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DYT19: Paroxysmal kinesigenic dyskinesia 2 (PKD2)
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DYT20: Paroxysmal non-kinesigenic dyskinesia (PNKD2)
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DYT21: Late onset dystonia
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DYT22: Dystonia 22
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DYT23: Cervical dystonia
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DYT24: Late onset dystonia
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DYT25: Cervical dystonia with local spread
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DYT26: Myoclonic dystonia 26
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DYT27
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DYT28
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DYT-VPS16
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Miscellaneous genetic causes of dystonia
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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.
- Müller U. The monogenic primary dystonias. Brain 2009; 132:2005-2025.
- Albanese A, Bhatia K, Bressman SB, et al. Phenomenology and classification of dystonia: a consensus update. Mov Disord 2013; 28:863-873.
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