## Abstract The GAG deletion in the DYT1 gene usually causes a typical form of primary torsion dystonia (PTD) with early onset in a limb, rapid generalization, and sparing of cranial–cervical muscles, but atypical phenotypes have often been reported. Here, we describe a large DYT1 Italian family wi
Atypical phenotypes of DYT1 dystonia in three children
✍ Scribed by Yilmaz, Unsal; Yüksel, Deniz; Atac, F.Belgin; Yilmaz, Deniz; Verdi, Hasibe; Senbil, Nesrin
- Book ID
- 122958351
- Publisher
- Elsevier Science
- Year
- 2013
- Tongue
- English
- Weight
- 100 KB
- Volume
- 35
- Category
- Article
- ISSN
- 0387-7604
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## 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 di
## Abstract Primary torsion dystonia (PTD) is a clinically and genetically heterogeneous group of movement disorders, usually inherited in an autosomal dominant manner with reduced (30–40%) penetrance. The DYT1 gene on chromosome 9q34 is responsible for most cases of early limb‐onset PTD. DYT1‐PTD
## Abstract The identification of a mutation of the __DYT1__ gene as a cause of inherited dystonia has led to many insights regarding the genetics of this disorder. In addition, there is a rapidly expanding list of inherited dystonia syndromes, the genes for some of which have been identified or lo