What Is Mitochondrial Disease

About 1 in 4,000 children will develop Mitochondrial Disease in the United States by the age of 10. It is for many patients an inherited condition that runs in families. It is genetic. It is important to determine which type of mitochondrial disease is inherited in order to predict the risk of occurrence for future children, although their can be random occurrences without the disease affecting other family members.

Mitochondrial disease is a result of failure of the mitochondria. Each cell except for red blood cells have a special compartment or hub. Mitochondria are responsible for creating more than 90% of the energy needed by the body. When they fail, less and less energy is generated within a cell. Cell injury and even call death can follow. If this process is repeated throughout the body, whole systems begin to fail.

Diseases of the Mitochondria appear to cause most damage to cells of the brain, heart, liver,skeletal muscles, kidneys, endocrine and respiratory systems.

Some cells are affected more than others, which include loss of motor control, muscle weakness and pain, gastrointestinal disorders, swallowing difficulties,poor growth, cardiac and liver disease, diabetes, respiratory problems, seizures, visual and hearing problems, lactic acidosis, developmental delays and children who are more prone to infection.

Because mitochondria perform so many different functions in different tissues, there are hundreds of different diseases. Each disorder produces a spectrum of abnormalities which can be confusing to both patient and doctor. Adults can have mitochondrial disease but can be even harder to diagnose due to the aging process which deteriorates the mitochondrial function.

Mitochondrial disease is difficult to diagnose. Referral to an appropriate research center is critical. Diagnoses can be made through a combination of clinical observations,labs,cerebral imaging, muscle biopsies and cerebral spinal fluid. Sadly, many patients do not receive a specific diagnosis.

Most of this is from the United Mitochondrial Disease Foundation. There is so much information to understand and its a bit confusing. If you would like more information please look at this website www.umdf.org.