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Children are evaluated by two child neurologists, Basil Darras, MD and Irina Anselm, MD.
Initial evaluation may include metabolic blood and urine screening, CSF analysis and MRI with MR spectroscopy. Further evaluation may include a muscle and skin biopsy.
Most patients undergo ophthalmologic evaluation with electroretinography (ERG), which helps to assess possible eye involvement. All patients undergo hearing testing.
Certain patients with mitochondrial disease may require further evaluation - metabolic as well as a nutritional assessment. Our neurologists work in close collaboration with Deborah Marsden, MBBS, Director of the Metabolism Program; evaluation in the Metabolism Clinic includes a meeting with a nutritionist.
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