Amish, Mennonite, and Hutterite
Genetic Disorder Database

Dystonia 1, torsion, autosomal dominant (DYT1)

OMIM #: #128100  (Click to access OMIM database)
Disorder: Dystonia 1, torsion, autosomal dominant (DYT1) 
Also known as: Torsion dystonia-1
dystonia musculorum deformans 1
early-onset torsion dystonia (EOTD) 
Phenotype: Symptoms present in childhood; dystonia, 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
1   Unknown / Other Mennonite  
Gene: TOR1A
Base Change: c.907_909delGAG
Amino Acid Change:
Last updated: 2017-06-06 

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