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The Issue of Misdiagnoses Among Mitochondrial Patients

Mitochondrial patients in North Carolina may be interested in a recent survey published in the medical journal Neurology Genetics. Researchers at Columbia University Irving Medical Center sent a 25-item questionnaire to 210 patients who had self-reported mitochondrial disease, and the results were rather startling.

On average, every patient had to see 8.2 different physicians and undergo multiple tests before even getting a diagnosis. For 55 percent, the initial diagnosis turned out to be wrong, and 32 percent reported being misdiagnosed more than once. The mitochondrial diseases were most often mistaken for psychotic disorders, fibromyalgia, chronic fatigue syndrome and multiple sclerosis. However, these four only account for 42 percent of the misdiagnoses.

Since mitochondria are found in most cells, mitochondrial diseases can affect almost any part of the body. In the Columbia survey, patients reported over 800 different symptoms, the most common being weakness, fatigue, difficulty walking, droopy eyelids and lack of coordination.

Mitochondrial diseases can be caused by a variety of gene defects. Researchers suggest that improved clinical training and improved diagnostics, particularly in the field of genetic testing, may be required before the current trend can be reversed. Diagnostic criteria are especially in need of standardization.

The failure to diagnose a disease can lead to worsening symptoms. However, victims do have the right to file for compensation under medical malpractice law. A settlement could cover the additional medical expenses as well as any pain and suffering. Before filing, however, it might be a good idea to get a lawyer's evaluation of the case.


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