Dystonia: genetic causes

Evidence-based neurology checklist on dystonia: genetic causes: 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…

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

DYT3: X-linked dystonia (Lubag)

DYT4: Whispering dysphonia

DYT5: Dopa-responsive dystonia

DYT6: Adult onset mixed torsion dystonia

DYT7: Focal adult onset torsion dystonia

DYT8: Paroxysmal non-kinesigenic dyskinesia 1 (PNKD1)

DYT9: Choreoathetosis/spasticity, episodic (CSE)

DYT10: Paroxysmal kinesigenic dyskinesia 1 (EKD1)

DYT11: Myoclonus dystonia

DYT12: Rapid-onset dystonia parkinsonism

DYT13: Familial cranio-cervical dystonia

DYT14: Dystonia 14

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 (PNKD2)

DYT21: Late onset dystonia

DYT22: Dystonia 22

DYT23: Cervical dystonia

DYT24: Late onset dystonia

DYT25: Cervical dystonia with local spread

DYT26: Myoclonic dystonia 26

DYT27

DYT28

DYT-VPS16

Miscellaneous genetic causes of dystonia

References

  1. Muller U. The monogenic primary dystonias. Brain 2009; 132:2005-2025.
  2. Albanese A, Asmus F, Bhatia KP, et al. EFNS guidelines on diagnosis and treatment of primary dystonias. Eur J Neurol 2011; 18:5-18.
  3. Ledoux MS, Dauer WT, Warner TT. Emerging common molecular pathways for primary dystonia. Mov Disord 2013; 28:968-981.
  4. Müller U. The monogenic primary dystonias. Brain 2009; 132:2005-2025.
  5. Albanese A, Bhatia K, Bressman SB, et al. Phenomenology and classification of dystonia: a consensus update. Mov Disord 2013; 28:863-873.
  6. And 15 more. Subscribe to see the full list

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