Metabolic myopathies (MM) are an important group of potentially treatable inherited muscle disorders affecting children and adults.
Major advances have been achieved in the diagnosis of these disorders over the past years thanks to improvements in biochemical and molecular techniques. However, exercise testing and muscle biopsy still have an important place in the diagnostic strategy.
Better understanding of the clinical course of various metabolic myopathies has led to a multidisciplinary approach to care, follow-up and improved outcomes. Disease modifying enzyme replacement therapy is available for one of the main muscle glycogenoses, Pompe disease, and novel drugs are in the pipeline for other conditions. .
More information www.rrd-foundation.org
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spdm@ff.ul.pt
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