Study of mitochondrial disease describes “diagnostic odyssey”

Study of mitochondrial disease describes “diagnostic odyssey”

A new report published in Neurology Genetics has shown that patients with mitochondrial diseases see an average of eight different physicians before they’re even diagnosed. This “diagnostic odyssey” is something that residents of Pennsylvania will want to know more about if they suspect that they’re suffering from a mitochondrial disease.

Researchers at Columbia University Irving Medical Center created a 25-item questionnaire with help from the United Mitochondrial Disease Foundation, and this was given to 210 patients with self-reported mitochondrial diseases. One startling find was that the initial diagnosis patients received was incorrect in 55 percent of cases. 32 percent claimed they were misdiagnosed multiple times. Among the most common misdiagnoses were psychotic disorders, fibromyalgia and chronic fatigue syndrome.

The number of misdiagnoses is partly explained by the fact that 56.7 percent of the patients saw their primary care physician first; only 35.2 percent initially saw a specialist. Mitochondrial diseases can affect almost any part of the body because mitochondria are found in all cells outside of red blood cells. Surveyed patients reported a total of more than 800 symptoms, the most frequent being weakness, fatigue, difficulty walking, droopy eyelids and lack of coordination.

Researchers have identified a need for improved clinical training and diagnostic methods, especially in the field of genetic testing. Standardized diagnostic criteria also seem to be essential.

A doctor who fails to diagnose a condition may be held liable for medical malpractice, but before the victim can file the claim, several requirements must be met. This is where a lawyer may bring in the appropriate third parties as well as request an inquiry with the local medical board. It must be shown that a doctor-patient relationship existed and that the doctor neglected the standard of care. A lawyer might then negotiate for a settlement on the victim’s behalf.



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