Mitochondrial disease
Mitochondrial disease is a disease that is very difficult to diagnose because it tends to take on many different forms and may range substantially in severity. Problems with the disease may begin as early as birth yet show no symptoms until late in life. The mitochondria are tiny parts of a cell. There can be as many as 1,000 or more mitochondria per cell and these produce the energy that each cell needs to grow and function properly. If these mitochondria become damaged or do not work properly, the cells cannot properly carry out their needed bodily functions.
Mitochondrial diseases are classified into different types depending on which organ systems are affected as well as what specific symptoms are present. The disease may affect brain and nerve cells, kidneys, liver, muscles, eyes, heart, ears and/or the pancreas. While many patients have only one affected organ, some patients show mitochondrial disease in all major organs. Depending on which specific organs are affected and the severity of the disorder, the disease ranges from mild to potentially fatal.
Symptoms of the disease typically vary depending on which cells are specifically affected. Common symptoms of mitochondrial disease include loss of muscle strength or coordination, poor growth, learning disabilities and delays in development, mental retardation, hearing and/or vision problems, diseases of the heart, kidneys and/or liver, diabetes, seizures and other neurological disorders, respiratory problems, gastrointestinal complications, thyroid dysfunction and dementia. Symptoms will be different with every patient and while one patient may only have one of the related symptoms of the disease, another patient may show all symptoms.
There is currently no known cure for mitochondrial disease although treatments do help with the underlying symptoms. Treatment typically includes taking vitamins such as thiamine, vitamin C, vitamins B1 and B12, E. Lipoic acid and coenzyme Q10 supplements. Research is currently being conducted on a number of different drugs designed to block the buildup of lactic acid in the body since this is a common factor in those diagnosed with the disease. Low carbohydrate diets are also being studied for treatment purposes.
Studies have shown links between mitochondrial disease and other medical conditions such as Alzheimer’s Disease, many forms of heart disease and Parkinson’s Disease. It is believed that all of these conditions involve some form of damage to the mitochondria. It is also believed that the aging process may have some impact on mitochondrial damage. Many patients inherit the disorder while others acquire or develop symptoms based on other factors such as mitochondrial toxins. In order to prevent the risk of recurrence of the disease in children of patients, the specific type of mitochondrial disease genetic inheritance must be determined.
Diagnosing mitochondrial disease is typically very expensive as well as invasive and time-consuming. The actual diagnostic process may include many tests, clinical observations and discussions with your doctor. It is often difficult to diagnose even after extensive testing. In most cases however, doctors should be able to establish whether or not a metabolic disease is present. Reaching a final diagnosis typically includes a full evaluation of a patient’s family history, a complete physical as well as a complete neurological examination, metabolic examination including urine, blood and cerebral spinal fluid and other tests depending on the specific patient. Other tests that may be needed to determine a diagnosis include a retinal examination, magnetic resonance imaging or MRI, EKG for heart disease symptoms and other blood tests to check for genetic markers of the disease. Other, more invasive tests may also be ordered. These may include biopsies of the affected muscles and biopsies of the skin. Your doctor will be able to tell you which specific tests will be needed should he or she feel that you potentially have mitochondrial disease.
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