Dystonia and mitochondrial disease: the movement disorder connection revisited in 900 genetically diagnosed patients.

This article, published in the Journal of Neurology, examines the relationship between dystonia and mitochondrial disease in 900 genetically diagnosed patients. Dystonia is a movement disorder characterized by excessive muscle contractions, and it often occurs alongside other movement disorders or neurological signs. The study analyzes two large groups of patients with dystonia and suspected mitochondrial disease to determine the frequency of mitochondrial gene defects and the prevalence of dystonia as a clinical feature. The study identifies 57 nuclear-encoded mitochondrial disease genes associated with dystonia, with the greatest overlap found in genes related to neurodegeneration with brain iron accumulation. The findings have implications for clinical practice and further research into the causes of dystonia. [Extracted from the article]