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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 moreWhy 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 moreDiagnostic 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.Contact
Address
Radboudumc
Geert Grooteplein Zuid 10
6525 GA Nijmegen
Route 830
Phone
+31 24 361 44 30
