The Foundation for Mitochondrial Medicine says the following about Mitochondrial Disease:
Overview of Mitochondrial DiseaseMitochondrial disease or dysfunction is an energy production problem. Almost all cells in the body have mitochondria, which are tiny "power plants" that produce a body's essential energy.
Mitochondrial disease means the power plants in cells don't function properly. When that happens, some functions in the body don't work normally. It's as if the body has a power failure: there is a gradation of effects, like a 'brown out' or a 'black out'.
Scientifically, it is actually a category or group of diseases. That's why mitochondrial disease takes many different forms and no two people may look alike.
It can look like any number of better known diseases: Autism, Parkinson's, Alzheimer's, Lou Gehrig's disease, muscular dystrophy and, chronic fatigue. Staying with the power plant analogy, power plants provide energy to a large community with each part of the community requiring varying degrees of power; in the same way, mitochondria provide energy to various organs of the body. So, when there is a mitochondrial dysfunction, a "black out" looks like Leigh's Disease, severe and fatal, while a "brown out" might be severe, but not lethal.
What happens to you when you get it?Mitochondrial disease primarily affects brain, heart and muscle in varying levels of severity.
It ranges from intermittent difficulty thinking, remembering, moving and acting, to severe handicaps. Some results may be fatigue, muscle weakness and diabetes. And all this is overlaid by good and bad days caused by significant inconsistency-like the electricity flickering in different areas of a community.
Though the impression most have of mitochondrial disease is a disorder that presents itself at birth, it can appear at any age. For some it develops over time.
The United Mitochondrial Disease Foundation has helped us over the last year. Through their education and outreach programs, the UMDF has helped educate our family and, in turn, our physicians.
Here is what the UMDF says about Mitochondrial Disease:
What is Mitochondrial Disease?
The following definition is from the United Mitochondrial Disease Foundation (UMDF): Mitochondrial diseases result from failures of the mitochondria, specialized compartments present in every cell of the body except red blood cells. Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. When they fail, less and less energy is generated within the cell. Cell injury and even cell death follow. If this process is repeated throughout the body, whole systems begin to fail, and the life of the person in whom this is happening is severely compromised. The disease primarily affects children, but adult onset is becoming more and more common.
Diseases of the mitochondria appear to cause the most damage to cells of the brain, heart, liver, skeletal muscles, kidney and the endocrine and respiratory systems.
Depending on which cells are affected, symptoms may include loss of motor control, muscle weakness and pain, gastro-intestinal disorders and swallowing difficulties, poor growth, cardiac disease, liver disease, diabetes, respiratory complications, seizures, visual/hearing problems, lactic acidosis, developmental delays and susceptibility to infection