Abstract
Background Dystonia is the third most common movement disorder. It is manifested by involuntary and sustained muscle contractions with frequent twists and repetitive movement, abnormal posture and functional impairment. Genetic factors play significant role for causing dystonia. Till date twenty five loci (DYT1-DYT25) and sixteen genes have been reported for dystonia. The present study reports the screening of TOR1A (DYT 1) and THAP1 (DYT 6) among primary torsion dystonia patients of India.
Highlights
Dystonia is the third most common movement disorder
The present study reports the screening of TOR1A (DYT 1) and THAP1 (DYT 6) among primary torsion dystonia patients of India
A total of 321 patients were screened and ΔGAG mutation was identified in two brothers in a family suffering from primary generalized dystonia
Summary
Dystonia is the third most common movement disorder. It is manifested by involuntary and sustained muscle contractions with frequent twists and repetitive movement, abnormal posture and functional impairment. Molecular basis of DYT1 and DYT6 primary dystonia in Indian patients From International Conference on Human Genetics and 39th Annual Meeting of the Indian Society of Human Genetics (ISHG) Ahmadabad, India. Background Dystonia is the third most common movement disorder.
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