How to Diagnose Mitochondrial Disease

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• No reliable and consistent means of diagnosis currently exist. The road to diagnosis is often personalized based on symptoms. Clinicians are working to create diagnostic and treatment standards for mitochondrial medicine.

• Diagnosis can be made by DNA testing and/or muscle biopsy.

• Diagnosis of mitochondrial disease can be invasive, expensive, time-consuming, and labor-intensive. Therefore, evaluation is not taken lightly. Doctors experienced in diagnosing and treating these diseases will take either a step-wise approach to diagnosis or, in some centers, the evaluation takes place over a few days. The evaluation includes a combination of clinical observations and laboratory tests.

• Diagnosis can be made by:

Evaluating the patient’s family history Performing a complete physical examination Performing a neurological examination Performing a metabolic examination that includes blood, urine, and optional cerebral spinal fluid tests Performing other tests, depending on the patient’s specific condition and needs. These tests might include: — Magnetic resonance imaging (MRI) or scan (MRS) if neurological symptoms are present — Retinal exam or electroretinogram if vision symptoms are present — Electrocardiogram (EKG) or echocardiogram if heart disease symptoms are present — Audiogram or BAEP if hearing symptoms are present — Blood test to detect thyroid dysfunction if thyroid problems are present — Blood test to perform genetic DNA testing More invasive tests, such as a skin or muscle biopsy, might be performed as needed.


• Lack of understanding of the disease and misinterpretation of symptoms can lead to misdiagnosis.

• Further progression of symptoms can occur if the symptoms are missed and opportunities for treatment and support are not recognized.