Early-Onset Generalized Isolated Dystonia.

Dystonia beginning in childhood often progresses to generalized involvement, sometimes quite rapidly. 
Early-onset generalized dystonia starting in a lower limb is most commonly associated with mutations in the TOR1A gene. 

This presentation, and less commonly, early onset in an upper limb of dystonia (especially when the cranial musculature is spared), may be due to mutations in the following genes:

1. TOR1A gene, as noted.
2. THAP1 gene. Spasmodic dysphonia and prominent craniocervical involvement are the clinical hallmarks of mutations in this gene.
3. GCHI gene. Although mutations in the latter gene cause dopa-responsive dystonia, this condition may potentially be confused with other causes of dystonia.

Inherited isolated syndromes 

DYT-TOR1A

DYT-TUBB4 (Whispering Dysphonia)

DYT-THAP1

DYT-ANO3

DYT-GNAL

 

Inherited combined syndromes 

DYT-GCH1

DYT/PARK-TH

 

DYT-ATP1A3  (Rapid-onset dystonia parkinsonism)

DYT-SGCE Myoclonus-Dystonia  Myoclonus-Dystonia is a classical example of a dystonia which has a locus designation (DYT-11), but the clinical picture is dominated by myoclonus.

DYT-PRKRA

 

DYT/PARK-TAF1

McLeod syndrome; Chorea-acanthocytosis

Wilson disease

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

---