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Non-DYT1 early-onset primary torsion dystonia: comparison with DYT1 phenotype and review of the literature.
- Source :
-
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2006 Sep; Vol. 21 (9), pp. 1411-8. - Publication Year :
- 2006
-
Abstract
- To investigate the clinical features of early-onset primary torsion dystonia (EO-PTD), 57 consecutive genetically characterized patients with onset before 21 years were studied. Sex, ethnic origin, family history of dystonia, age at onset, disease duration, site of dystonia onset and distribution at latest examination, dystonia progression, time to generalization, and motor disability were noted. The 14 patients (25%) with GAG deletion (904&#95;906/907&#95;909delGAG) in the DYT1 gene were compared with the remaining non-DYT1 patients. Cranial involvement was present in 49% of non-DYT1 cases, but only 14% of DYT1 cases; non-DYT1 patients were younger at time of generalization. DYT1 cases had features similar to sporadic non-DYT1 cases but differed markedly from familial non-DYT1 cases, the latter having later age at onset, less common limb onset, more frequent cervical involvement, and slower progression than DYT1 PTD. These findings indicate that non-DYT1 forms of EO-PTD differ clinically from those of DYT1 forms. Cranial involvement before 21 years of age is the strongest predictor of non-DYT1 status. Positive family history and cervical involvement are associated with less severe progression in non-DYT1 forms.<br /> ((c) 2006 Movement Disorder Society.)
- Subjects :
- Adolescent
Adult
Age Factors
Aged
Child
Chromosome Deletion
Disability Evaluation
Disease Progression
Female
Humans
Male
Middle Aged
Neurologic Examination
Torticollis diagnosis
Torticollis genetics
Trinucleotide Repeats
Dystonia Musculorum Deformans diagnosis
Dystonia Musculorum Deformans genetics
Molecular Chaperones genetics
Phenotype
Subjects
Details
- Language :
- English
- ISSN :
- 0885-3185
- Volume :
- 21
- Issue :
- 9
- Database :
- MEDLINE
- Journal :
- Movement disorders : official journal of the Movement Disorder Society
- Publication Type :
- Academic Journal
- Accession number :
- 16773641
- Full Text :
- https://doi.org/10.1002/mds.21000