Formation sur les glycogénoses musculaires

Mise à jour vendredi 07/04/2023


Muscle glycogenosis (GSDs) is 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.

Better understanding of the phenotypes and clinical course of the various glycogenosis has led to improved multidisciplinary approach to care, follow-up and improved outcomes.

Depending on the aetiologies, various therapeutic approaches are available such as specific diets, enzyme replacement therapy, exercise, and novel drugs or gene therapy are in the pipeline. 



• To describe the pathophysiology and clinical features of the main muscle glycogenosis in children and adults (McArdle disease, Pompe disease, GSD3), but also less frequent glycogenosis (polyglucosans storage myopathies and glycolysis disorders) and their differential diagnosis. • To describe the main diagnostic tools (exercise tests, muscle biopsy, biochemical and molecular analysis) and to discuss their respective positions in the diagnostic work-up in 2023. • To provide guidance for diagnosis and management of muscle glycogenosis. • To describe current treatments and emerging therapies.


This course is aimed at paediatricians, neurologists, neuromuscular specialists, internists, cardiologists, geneticists, biochemists, and other clinicians and scientists willing to improve their knowledge in the diagnosis and treatment of muscle glycogenosis + differential diagnosis with other metabolic myopathies.

Équipe pédagogique

Prof. Pascal Laforêt, Paris

Prof. Nadine van der Beek, Rotterdam

Prof. Ans van der Ploeg, Rotterdam

Prof. John Vissing, Copenhagen

Public concerné

  • Professionnel

Période de la formation



Thursday 13 April 13:45

Start of the course Clinical recognition and diagnostic clues of muscle glycogenosis. Introduction to the muscle glycogenosis focus course. Pascal Laforêt Main muscle glycogenosis in adults: clinical features Pascal Laforêt Main muscle glycogenosis in children: clinical features Ans van der Ploeg Muscle pathology of muscle glycogenosis Teresinha Evangelista Biochemical analysis in blood, liver and muscle Ralph Wigley Genetic diagnosis of muscle glycogenosis Morten Duno Role of exercise tests for diagnosis and evaluation of treatments John Vissing Cardiac manifestations of muscle glycogenosis Karim Wahbi Whole body muscle MRI and DEXA Robert-Yves Carlier Collective debate: usefulness of biochemical assays, muscle biopsy, exercise tests… Dinner at the hotel.

Friday 14 April

Clinical features and diagnosis of muscle glycogenosis. McArdle disease: clinical features Nikoline Løkken, John Vissing Other muscle disorders of glycogenolysis mimicking McArdle (Phosphorylase b kinase, PFK, PGK, PGAM, β enolase) Salman Bhai Clinical features of Pompe disease in children Ans van der Ploeg Clinical features of Pompe disease in adults Nadine van der Beek, Ans van der Ploeg Diagnostic clues of Pompe disease John Vissing GSD3 Amel Ben Chehida, Pascal Laforêt Phosphoglucomutase deficiency Dirk Lefeber Glycogen synthase deficiency Anders Oldfors Polyglucosan storage myopathies: clinical and pathological features Pascal Laforêt, John Vissing, Anders Oldfors Participant cases with discussion + rare cases presented by teachers Workshop 1: paediatric cases; Workshop 2: adult cases Dinner in Paris

Saturday 15 April

Treatments: drugs, diets, exercise therapy and gene therapy. Current treatments and trials for McArdle disease Nicoline Løkken ERT in classical infantile form Hannerieke van den Hout, Ans van der Ploeg ERT in Pompe disease: long term effects Nadine van der Beek Future treatments and clinical trials for Pompe disease Nadine van der Beek, Ans van der Ploeg Role of registries for the long-term follow-up of treatments Pascal Laforêt Current dietary approaches for treatment of muscle symptoms. Role of exercise. Elaine Murphy, John Vissing 12:30 End of the course

Méthode pédagogique

  • Conférence