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Metabolic myopathies focus course

03 nov, 2016


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. .


  • To describe the pathophysiology and clinical features of main metabolic myopathies (glycogenoses, fatty acid oxidation disorders and mitochondrial myopathies) and their differential diagnosis.
  • To familiarize participants with the main diagnostic tools: exercise testing, muscle biopsy, and biochemical and molecular genetic analysis.
  • To provide guidance for diagnosis and management of rhabdomyolysis.
  • To describe current treatments and follow-up of metabolic myopathies.
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  • La Pitié-Salpêtrière hospital, Paris
  • Rigshospitalet, University of Copenhagen, Copenhagen

More information





Faculdade de Farmácia da U.L.
Av. Prof. Gama Pinto
1649-003 Lisboa

Contacto: Fernanda Asper
Telefone.: +351 217 946 400
Fax: +351 217 946 491


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