Treatment and Etiology

At present, there are no cures for mitochondrial disorders and no truly effective treatments. The goals of current treatments are: to alleviate symptoms, and to slow down the progression of the disease.

General therapies often include supplements such as CoQ10 and vitamin "cocktails" which may enhance enzyme activity within the mitochondria, and act as antioxidants. Effectiveness of such treatments is largely anecdotal, noticeably helping some and not others. As a rule, those with mild disorders tend to respond better than those with severe disorders. While effectiveness may not be definable, these treatments may delay the progression of the disorder.

Prescription medications may also be necessary to control such symptoms as seizures, heart irregularities, and secondary diabetes. Physical therapy, speech therapy, and other types of therapies may also be utilized.

Some typical considerations regarding treatment of mitochondrial patients include the following:

•  Standard therapies for specific symptoms may be necessary.

•  Dietary - some mitochondrial patients may be on strict diets; others may not. Avoidance of fasting is critical; small, frequent meals may be necessary. Patients with GI and swallowing difficulties may require gastric tube feedings.

•  Vitamins and supplements are usually prescribed.

•  Treatments must be tailored to the individual, often resulting from trial and error by the physician.

•  Avoidance of physiologic (external) stress factors. Those with autonomic symptoms (inability to control involuntary functions such as temperature control and heart rate) may require a more controlled temperature environment. Over- or under-heating may trigger a medical crisis.

•  Avoidance of exposure to illness - even minor acute illnesses, such as colds, may cause a medical emergency, resulting in hospitalization.

Mitochondrial disorders are generally progressive and may be fatal. However, due to the individuality of symptoms and the differences in specific mitochondrial disorders, it is sometimes difficult even for physicians to predict a prognosis. Some patients live into adulthood. However, earlier and more severe symptoms generally result in a shorter life span.

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