Globus pallidus internus stimulation resulted in significant improvement in BFM outcome scores for patients with DYT1 negative or positive dystonia, PKAN, idiophatic dystonia, tardive dystonia, posttraumatic dystonias, and cerebral palsy.
2010 (Schmidt and Klein 2010) Designation Dystonia type DYT1 Early-onset generalized torsion dystonia (TD) DYT2 Autosomal recessive TD DYT3 X-Iinkeed dystonia parkisonism; 'lubag' DYT4 'Non-DYTI' TD: whispering dysphonia DYT5a Dopa-responsive dystonia.
Exclusion of the DYT1
locus in familial torticollis," Annals of Neurology, vol.
The DYT1, phenotypeand guidelines for diagnostic testing, Neurology.
Phenotypic expression of the DYT1 mutation: a family with writer's cramp of juvenile onset.
Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia.
GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany.
This prospective study is the first to report on more than 3 years of follow-up of deep brain stimulation (DBS) in DYT1
dystonia--a form of primary dystonia that typically presents in early childhood and is caused by a mutation in the DYT1
Indeed, recent work reveals that only 30 to 40 percent of people with a mutated DYT1 ever show its effects.
The DYT1 mutation is rare, occurring in no more than I in 5,000 people in the United States.
Future research will involve rodents with and without mutated DYT1, Ozelius says.
GAG deletion is infrequent in sporadic and familial writer's cramp.