Let's talk TK2d

Thymidine kinase 2 deficiency, or TK2d, is a rare type of mitochondrial disease that mainly affects the muscles and can impact movement, swallowing, speech and breathing. Symptoms can begin in infancy or childhood, but may also first appear during the teenage years or adulthood.In this episode, we explore how changes in the TK2 gene affect mitochondrial DNA and energy production, why symptoms can vary so widely between people, and how TK2d is inherited. We also discuss the tests that may be used during diagnosis, genetic counselling, ongoing monitoring and emergency planning, as well as current research and emerging therapies.The information in this episode is based on Mito Foundation resources. For support, call the Mito Foundation Helpline on 1300 977 180 or visit mito.org.au. Subscribe and follow MitoCast wherever you found this episode.