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Study reveals "diagnostic odyssey" of mitochondrial patients

Mitochondrial diseases can affect almost any part of the body, and their wide range of symptoms can make it all too easy for doctors to misdiagnose them. Most primary care physicians also have little familiarity with these (comparatively rare) diseases. Patients in Texas who suffer, or believe they suffer, from a mitochondrial disease should know about a study detailing the "diagnostic odyssey" that many people in their situation go through.

In the study, which was conducted by Columbia University Irving Medical Center, scientists had 210 patients with self-reported mitochondrial disease answer a 25-item questionnaire. The United Mitochondrial Disease Foundation helped the university researchers become familiar with the patients' perspective.

The results were startling. On average, each patient had to see eight different physicians before receiving a diagnosis. In 55 percent of the cases, that initial diagnosis turned out to be an incorrect one. Thirty-two percent of the patients claimed they were misdiagnosed more than once. Only 35.2 percent of the people, however, sought out a specialist for the initial diagnosis.

Mitochondrial diseases, which often result in weakness, fatigue, difficulty walking and loss of coordination, were most often mistaken for psychiatric disorders, fibromyalgia, chronic fatigue syndrome and multiple sclerosis. These four conditions only accounted for 42 percent of the misdiagnoses. A total of 800 different symptoms were reported in the survey. It seems clear, researchers stated, that better clinical training and standardized diagnostic criteria are needed.

In clear cases of medical negligence, victims can consider filing a malpractice claim. It would be a good idea for a victim to hire a lawyer beforehand, though, to request an inquiry with the local medical board and provide representation either at the negotiation table or in court. Attorneys could even hire third-party medical experts to show that the doctor's misdiagnosis resulted from failure to live up to the standard of care. A successful claim could cover a person's medical expenses, pain and suffering and more.

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