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© 2006 American Academy of Neurology Mitochondrial disease criteriaDiagnostic applications in childrenFrom the Departments of Pediatrics (E.M., L.v.d.H., M.C.d.V., M.H., R.J.R., J.A.M.S.) and Human Genetics (F.H.), Nijmegen Centre for Mitochondrial Disorders, Radboud University Medical Centre Nijmegen, the Netherlands. Address correspondence and reprint requests to Dr. E. Morava, Department of Pediatrics, Nijmegen Centre for Mitochondrial Disorders, Radboud University Medical Centre Nijmegen, PO Box 9101, 6500 HB Nijmegen, the Netherlands; e-mail:E.Morava{at}cukz.umcn.nl Background: Based on a previous prospective clinical and biochemical study, a consensus mitochondrial disease scoring system was established to facilitate the diagnosis in patients with a suspected mitochondrial disorder. Objective: To evaluate the specificity of the diagnostic system, we applied the mitochondrial disease score in 61 children with a multisystem disease and a suspected oxidative phosphorylation disorder who underwent a muscle biopsy and were consecutively diagnosed with a genetic mutation. Methods: We evaluated data of 44 children diagnosed with a disorder in oxidative phosphorylation, carrying a mutation in the mitochondrial or nuclear DNA. We compared them with 17 children who, based on the clinical and metabolic features, also had a muscle biopsy but were finally diagnosed with a nonmitochondrial multisystem disorder by further genetic analysis. Results: All children with a genetically established diagnosis of a primary oxidative phosphorylation disorder had a mitochondrial disease score above 6 (probable mitochondrial disorder), and 73% of the children had a score above 8 (definite mitochondrial disorder) at evaluation of the muscle biopsy. In the nonmitochondrial multisystem disorder group, the score was significantly lower, and no patients reached a score comparable with a definite respiratory chain disorder. Conclusions: The mitochondrial disease criteria system has a high specificity to distinguish between mitochondrial and other multisystem disorders. The method could also be applied in children with a suspected mitochondrial disorder, prior to performing a muscle biopsy.
Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the November 28 issue to find the title link for this article. Supported by the European Community's Sixth Framework Program for Research, Priority 1 "Life Sciences, Genomics and Biotechnology for Health" (contract no. LSHM-CT-2004-503116). Disclosure: The authors report no conflicts of interest. Received March 6, 2006. Accepted in final form August 3, 2006.
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