Dystonia Awareness Week

4 May 2017

A research paper published last year investigated which movement disorders are seen in patients with Mitochondrial Disease and whether these could be linked to the underlying genetic error. The study identified 42 patients with Mitochondrial Disease (12 children and 30 adults) who had movement disorders. Dystonia was the most common movement disorder among children (92% of patients), most often associated with genetic errors causing Leigh Syndrome. Parkinsonism was the most common among adults (43% of patients), most often associated with genetic errors in a gene called POLG. These findings could help with genetic screening for Mitochondrial Disease.

To read the full article click here: movement_disorders_in_mitochondrial_disease.pdf