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Testing for mitochondrial disease

Published on Aug 24, 2015 at 2:08 pm in Medical Malpractice.

As Maryland residents may be aware, a physician’s diagnosis of a physical ailment may lead to more prompt and appropriate treatment and a better result when detected early. Some medical problems are caused as a result of a defect in the patient’s DNA and may be harder to detect without the use of special testing. One involves the disease, mitochondrial myopathy, which is caused by a mutation in the individual’s DNA. The mitochondria is an important part of DNA, since this is where energy is stored by the body.

One common mitochondrial diseases, MELAS, is neurodegenerative and progressive, affecting the musculature and nervous system. It may result in headaches, muscle pain and weakness and intolerance to exercise, among other symptoms. Patients who are severely affected may experience episodes that appear similar to strokes, and these episodes may begin before age 40.

According to a study reported on by a medical journal in China, magnetic resonance imaging, along with analysis of the genes, clinical symptoms and muscle biopsy, may assist a physician in making a correct diagnosis. Because this disease shows characteristics that are apparent through DNA analysis, this may help confirm the diagnosis. The prognosis of a patient suffering from mitochondrial myopathy may be dependent on early diagnosis and treatment, and a failure to diagnose may lead to worsening symptoms and a poorer outcome.

If a child is born with a genetic disease and the health care professional failed to perform diagnostic tests such as amniocentesis, the parents may wish to consult an attorney. The attorney may seek to determine if the standard of care involves such testing, particularly in certain circumstances. The parents may decide to file a malpractice lawsuit to recover damages due to current medical expenses and those in the future.

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