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Researchers say rare mitochrondrial disease often misdiagnosed

New Mexico readers may be interested to learn that a team of researchers has issued diagnosis recommendations for a rare and often misdiagnosed mitochondrial disease. Their findings were published in the Chinese Medical Journal.

The disease, known as mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes, or MELAS, involves DNA mutations of mitochondrial-expressed genes in the body. This can cause disorders in a number of body systems, especially the nervous system and muscles. Early symptoms including recurrent headaches, seizures, loss of appetite, vomiting, exercise intolerance and muscle pain and weakness. However, doctors often misdiagnosis the disease because it can have different clinical manifestations.

In order to improve diagnosis techniques, researchers looked at articles published on MELAS between 1984 and 2014, with a particular focus on papers that discussed neuroimaging, muscle biopsy, blood biochemistry, genetics and clinical features. They determined that the predominant feature of MELAS is stroke-like episodes. They also found that high levels of lactate may also be a signal of the disease. As for diagnosis, the authors of the study discovered that magnetic resource imaging, or MRI, muscle biopsies and genetic analysis provide helpful information when attempting to diagnose MELAS patients. They recommend using a combination of serial MRI findings, genetic results, muscle biopsies and clinical manifestations to make a definitive diagnosis. Early diagnosis is known to improve the prognosis of MELAS patients.

Amisdiagnosis can have life-altering consequences due to delayed treatment. New Mexico residents who believe they have been the victim of a physician error like misdiagnosis may benefit by consulting with an attorney. A medical malpractice lawsuit could bring needed financial relief to cover medical expenses, wages lost during recovery and other damages.

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