Diagnostic examinations

The diagnosis mitochondrial disorder will be assessed after the following investigations. Please note that this is a general guideline from which we can deviate in case specific symptoms allow for a more direct diagnosis, for example a hereditary mitochondrial disorder running in the family. When you have a referral from the general practitioner or medical specialist you will be scheduled at our clinic (pediatrics for children, internal medicine for adults). During our first consultation we will physically examine you or your child. If necessary we will perform metabolic screening in blood and urine. If necessary we will perform additional multidisciplinary (physical) examinations. When we have a strong suspicion of a mitochondrial disorder we will perform a muscle biopsy and/or DNA screening, depending on the assessment by the physician. In children the muscle biopsy will be obtained from the upper leg under complete anesthesia. In adults we will obtain a needle biopsy under local anesthesia at the department of neurology. The muscle tissue will be microscopically examined and enzyme activities will be measured. Based on a combination of the physical examination, metabolic screening, muscle biopsy and/or DNA screening we can usually confirm or refute the diagnosis mitochondiral disorder.
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Patient care Conditions Leigh

Why visit the Radboud University Medical Center?

The Radboud Center for Mitochondrial Medicine (RCMM) is a nationally and internationally recognised expert center for clinical care, diagnostics and research for patients with a mitochondrial energy disorder. read more

Why visit the Radboud University Medical Center?

The Radboud Center for Mitochondrial Medicine (RCMM) is a nationally and internationally recognised expert center for clinical care, diagnostics and research for patients with a mitochondrial energy disorder. By integrating all mitochondrial clinical care, diagnostics and research within the Radboud University Medical Center, the RCMM provides specialised services for patients and their caregivers and shares medical expertise with professionals. Our physicians are specialised in recognising mitochondrial disorders and are aware of the latest scientific developments in the field.

Diagnostic examinations

After oral or written consultation you will be called into our clinic. During the first appointment we will physically examine you or your child. read more

Treatment

At this moment no effective treatment is available that can remedy mitochondrial disorders. We can alleviate symptoms such a epilepsy by medication. read more

Treatment


Currently available therapy is mostly supportive, through proper checkups by physicians and a diet (sufficient intake, or after consulting a dietician, enteral tube feeding). Sometimes carnitine, riboflavin, arginine, co-enzyme Q10 and/or other supplements will be prescribed. However, the effectiveness of these supplements is not always clear. At the Radboud University Medical Center we also investigate more effective medication for this disorder. Neurological, ophtamological and cardiological evaluations at regular intervals are a requirement for monitoring  progression of the disease and to discover new symptoms. There are no standard guidelines for patients with a mitochondrial disorder. Therefore it is advised to consult a medical specialist in the field of mitochondrial disorders (paediatrician, internist or neurologist) at least once a year. Investigations during or prior to pregnancy are not completely reliable.

Medical flowchart

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Medical flowchart

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Contact

Do you have questions or remarks, please contact the RCMM.

Contact information

Contact

Address
Radboudumc
Geert Grooteplein Zuid 10
6525 GA Nijmegen
Route 830

Phone
+31 24 361 44 30