The term “Mitochondrial disease” refers to a group of disorders. There are so many types of Mitochondrial disease it would be impossible to name them all, and many have yet to be discovered. Each condition is the result of a genetic mutation – a specific change in the genetic material of the mitochondria. The mutation causes the mitochondria to fail.
When mitochondria fail, less and less energy is made in the cells. The cells may stop working or die. Depending on where the affected cells are, parts of the body may not function properly and many health problems can result. The symptoms of Mitochondrial disease can range from mild to severe.
There is no cure for mitochondrial disease. However, many people have a normal life span with their disease well managed.
Research is underway across the world that will help us learn more about these diseases and find new treatments and therapies.
On this website, we talk generally about mitochondrial disease, because the questions and needs of patients are similar, whether a specific mutation has been found or not.
Information in this section is taken from “Understanding and Coping with Mitochondrial Disease: A Guide for Patients and Parents”
Author – Ms. Laura Bainbridge, RN, BScN, MEd
Scientific and Medical Editor and Contributor – Dr. Mark Tarnopolsky , MD, PhD, FRCP
From the Hamilton Health Sciences and McMaster Children’s Hospital Neuromuscular and Neurometabolic Clinic, 2007
Used with permission from the Author and Editor.
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