Dystonia 1, torsion, autosomal dominant
| Disorder | |
|---|---|
| OMIM #: | #128100 (Click to access OMIM database) |
| Disorder: | Dystonia 1, torsion, autosomal dominant |
| Also known as: | DYT1 Torsion dystonia-1 dystonia musculorum deformans 1 early-onset torsion dystonia (EOTD) |
| Clinical | |
| Phenotype: | Symptoms present in childhood; torsion dystonia, vertebral defects, torticollis, facial grimace, blepharospasm, involuntary twisting and repetitive movements, abnormal postures, starts in limbs and progresses to other areas |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal dominant |
| Mutations | |
| 1 Unknown / Other Mennonite | |
| Gene: | TOR1A |
| Base Change: | c.907_909delGAG |
| Amino Acid Change: | |
| Last updated: | 2023-02-01 |
| References |
|---|
| Klein C, Brin M, de Leon D, Limborska S, Ivanova-Smolenskaya I, Bressman S, Friedman A, Markova E, Risch N, Breakefield X, and Ozelius L. (1998) De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia. Hum Mol Genet 7(7): 1133-1136. PubMed ID: 9618171 |
| Ozelius LJ, Hewett JW, Page CE, Bressman SB, Kramer PL, Shalish C, de Leon D, Brin MF, Raymond D, Corey DP, Fahn S, Risch NJ, Buckler AJ, Gusella JF, Breakefield XO. (1997) The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet Sep;17(1):40-8. PubMed ID: 9288096 |
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