Genetic Forms

At present researchers have recognized multiple forms of inheritable dystonia and have identified the following genes or chromosomal locations responsible for the various manifestations.

• DYT1  –   Early onset-generalized dystonia
• DYT2  –   Autosomal recessive dystonia
• DYT3  –   X-linked dystonia parkinsonism or Lubag
• DYT4  –   Whispering dysphonia
• DYT5  –   Dopa-Responsive Dystonia; Segawa syndrome (DYT14)
• DYT6  –   Adolescent-onset dystonia of mixed type
• DYT7  –   Adult-onset focal dystonia
• DYT8  –   Paroxysmal non-kinesigenic dyskinesia
• DYT9  –   Paroxysmal choreoathetosis with episodic ataxia and spasticity
• DYT10 –  Paroxysmal kinesigenic dyskinesia choreoathetosis
• DYT11 –  Myoclonus dystonia
• DYT12 –  Rapid-onset dystonia-parkinsonism
• DYT13 –  Cranial-cervical dystonia
• DYT15 –  Myoclonus-dystonia
• DYT16 –  Early-onset generalized-parkinsonism
• DYT17 –  Early-onset dystonia
• DYT18 –  Paroxysmal exertion-induced dyskinesia
• DYT19 –  Episodic kinesigenic dyskinesia
• DYT20 –  Paroxysmal nonkinesigenic dyskinesia
• DYT21 –  Late-onset dystonia

Studying these genes already identified may shed light on the mechanisms of the disease process itself or reveal a pattern which produces certain proteins. This research has potential to help all. All dystonias have similar symptoms which involve the same area of the brain and the similar neurotransmitters. Until now, we have directed treatments to the effects of dystonia. Now we can attempt to direct treatment efforts to the causes of dystonia.