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Mitochondrial patients face “diagnostic odyssey,” study says

Mitochondria are found in all cells except the red blood cells, so mitochondrial diseases can affect almost any area of the body. Since their most common symptoms include weakness and fatigue, it is, unfortunately, natural that the diseases are often misdiagnosed. Residents of Pennsylvania should know about a recent report published in Neurology Genetics that describes the “diagnostic odyssey” of many mitochondrial patients.

After surveying 210 patients with self-reported mitochondrial disease through the Rare Diseases Clinical Research Network, researchers found that an average of eight different physicians are consulted before a diagnosis. Approximately 55 percent of patients claimed that the initial diagnosis wasn’t correct, and 32 percent reported being misdiagnosed more than once. Nearly 57 percent initially saw their primary care physicians, most of whom may be unfamiliar with mitochondrial diseases.

The diseases were mistaken most for psychotic disorders, fibromyalgia, chronic fatigue syndrome and multiple sclerosis. However, these only account for 42 percent of the misdiagnoses. Patients reported more than 800 symptoms, which also partly explains the trend of frequent misdiagnoses.

Another explanation is that current diagnostic methods, especially in the field of genetic testing, are in need of improvement. A variety of genetic defects can cause mitochondrial diseases. The findings also suggest a need for better clinical training and standardized diagnostic criteria.

Under medical malpractice law, victims who are injured on account of a misdiagnosis may file a claim to be reimbursed for medical expenses, pain and suffering and other losses. A lawyer might request a medical inquiry in the effort to find proof of the doctor’s negligence. It must also be shown that there was a doctor-patient relationship, that the negligence led to the accident and that the accident led to the specified injuries. The lawyer may then proceed to negotiations for a settlement or litigate.

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