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Early diagnosis and management of patients with metabolic myopathies is essential for the patient’s outcome. Quick and correct recognition of specific inherited metabolic disease is frequently a challenge both for paediatricians and specialists dealing with adult patients. It may be especially difficult in critically ill patients or patients with multi-organ involvement or neonatesand small infants. It requires a multidisciplinary, contemporary and rational approach to distinguish between a primary genetically encoded metabolic disorder, secondary or other muscle disorders resulting in similar clinical picture, particularly in the light of permanently growing number of inherited diseasesaffecting the muscle and novel diagnostic options.

This interactivecourse includes lectures, case reports, workshops, debates and patients’ stories and is run by a highly specialised and experiencedteam of expertsin metabolic myopathies.


This course is aimed at neurologists, paediatriciansand metabolic physicians dealing with muscular diseases, but also geneticists, intensive care specialists, biochemists, physiatristsand otherhealthcare professionalswho are involved in care of patients with muscle diseases.