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Study examines diagnostic approaches to MELAS

North Carolina residents may be unfamiliar with the relatively rare disease MELAS. It is frequently misdiagnosed, but a new study published in the Chinese Medical Journal looked at the available diagnostic tools and concluded that using a combination could lead to an early and more accurate diagnosis. Patients with MELAS who are diagnosed early have a better prognosis.

A neurodegenerative disease, MELAS may affect multiple body systems and include symptoms such as vomiting, seizures and muscle pain. The study found that its most common clinical symptom is stroke-like episodes, and identifying these is key in diagnosing MELAS. MRIs can also be helpful.

Biopsies and genetic testing can also lead to MELAS diagnoses. Four out of five cases of MELAS are due to a mutation in the mitochondrial DNA sequence. A muscle biopsy can indicate MELAS through the appearance of fibers. Less definitively, high lactate levels sometimes suggest the presence of the disease.

An individual might have a disease like MELAS for a long time without being properly diagnosed. This can be a problem with diseases that have symptoms such as muscle fatigue and headaches that accompany many diseases and with diseases that are diagnosed more by a process of elimination than a definitive test. In some cases, people with nonspecific symptoms may feel as though doctors are not taking them seriously. A person whose doctor has failed to diagnose a disease like MELAS may wish to consult an attorney to discover whether the failure to diagnose might be considered medical malpractice. For example, if the medical professional did not pursue a diagnosis diligently, that might be considered medical negligence. The patient might be able to file a lawsuit although the doctor or medical facility responsible might also agree to settle the matter out of court.

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