New study addresses misdiagnosis of mitochondrial disease

An estimated 75,000 people in Missouri and across the U.S. suffer from mitochondrial disease, which is a rare genetic disorder. The mitochondria generate over 90 percent of the body's energy, so when these intercellular compartments become diseased, they can cause symptoms that range from weakness and fatigue to impaired coordination. The rarity of the disease combined with the heterogeneity of the symptoms leads to frequent misdiagnoses.

A new survey conducted by researchers at the Columbia University Irving Medical Center has shed light on this trend. 210 patients diagnosed with mitochondrial disease were surveyed; 55 percent said that they were misdiagnosed before receiving the correct diagnosis with 32 percent claiming to have been misdiagnosed more than once. It was found that patients underwent everything from brain MRIs to blood tests to muscle biopsies.

The disease was most frequently mistaken for a psychiatric disorder (13 percent of the patients), followed by fibromyalgia, chronic fatigue syndrome and multiple sclerosis. The most common forms of mitochondrial disease that were diagnosed included myopathy, mitochondrial encephalopathy and lactic acidosis.

The surveyed patients reported over 800 different symptoms. Researchers stress the need for improved clinical training and improved diagnostics, particularly in the area of genetic testing in order to reduce misdiagnoses. They have stated that they will continue to monitor diagnoses in the future.

Victims of misdiagnoses may have the grounds to file a malpractice claim so long as several requirements are met. For example, there must be proof of an existing doctor-patient relationship, and the patient must have done everything the doctor instructed. A lawyer could request an inquiry with the local medical board and hire investigators. A medical malpractice attorney could also handle all negotiations and speak on the victim's behalf in court should litigation become necessary.

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