The authors concluded that clinically unaffected DYT1 mutation carriers exhibit mild abnormalities in motor behavior and brain functioning, suggesting an innate compensation for mild striatal dysfunction. 56: 283-286, 2004.[Pub Med: 15293281] [Full Text]" pmid="15293281"Carbon et al.
She never learned to walk independently and became wheelchair-bound at age 5 years.
At age 13, she could no longer eat or drink without assistance. 54: 102-109, 2003.[Pub Med: 12838525] [Full Text]" pmid="12838525"Ghilardi et al.
However, only 2 were affected by dystonia, indicating a penetrance of 29%.
One of the affected individuals had late-onset mild torticollis, and the other had generalized jerky dystonia. 250: 92-96, 2006.[Pub Med: 17027035] [Full Text]" pmid="17027035"Zirn et al.
In addition, 3 family members with dystonia did not carry the DYT1 mutation, indicating genetic heterogeneity or possibly a psychogenic origin. (2008) reported an 18-year-old girl with a severe form of early-onset dystonia.