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Genetic disorder may be misdiagnosed as stroke

Residents of Ohio may know that a report was recently issued on mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. This disease, known as MELAS, can mimic a stroke, and individuals who suffer from such episodes may be wrongly diagnosed.

MELAS is a genetic disease involving tiny organelles called mitochondria. These organelles help produce energy and are caused by mutations in the DNA. When this genetic mutation presents itself, the individual may experience a myriad of symptoms. The symptoms are determined by the body systems that are affected by this progressive nervous disorder. Some symptoms include muscle pain and weakness, seizures, intolerance to exercise, headaches that recur, vomiting and a distaste for food and high lactate levels. Affected individuals are subject to episodes that resemble stroke before they reach 40 years of age.

Material held in PubMed, a database of the National Center for Biotechnology Information, was reviewed by research team members. The records cover the period from 1984 to 2014. The search was based on observed symptoms and diagnostic tests. Muscle biopsy is important in diagnosis since the muscle fibers take on a distinctive appearance. Mutation of the transfer RNA mitochondrial gene occurs in about 80 percent of patients.

Since the symptoms closely resemble that of a cerebrovascular accident, some patients are told they have suffered a stroke. Diagnosis parameters often include MRI, genetic determinations and muscle biopsy. No currently approved treatment exists, and misdiagnosis may lead to other complications. Specific tests are used to diagnose this disorder and other genetic diseases.

A failure to diagnose a disease may be the result of not ordering the correct tests or having a solid differential diagnosis. A patient whose condition has worsened as a result may want to speak to a medical malpractice attorney in order to determine if any recourse is available.