Zusammenfassung
Die primären hereditären metabolischen Myopathien sind eine heterogene Gruppe von Erkrankungen, die meist den Energiestoffwechsel des Muskels beeinträchtigen. Hierzu zählen Defekte von Glykogenstoffwechsel und Glykolyse, Defekte der mitochondrialen Fettsäure-β-Oxidation und Defekte der mitochondrialen Atmungskette. Gemeinsam ist diesen Erkrankungen das Auftreten episodischer Rhabdomyolysen im Rahmen metabolischer Entgleisungen. Entsprechend den unterschiedlichen pathophysiologischen Abläufen müssen für die einzelnen Krankheitsgruppen auch ganz verschiedene Empfehlungen bezüglich Art und Ausmaß einer sportlichen Betätigung ausgesprochen werden, da prinzipiell jegliche körperliche Belastung eine Rhabdomyolyse provozieren kann. Andererseits werden Muskelkraft und Belastbarkeit bei richtig dosiertem Training günstig beeinflusst. Um das Auftreten eventuell lebensbedrohlicher Komplikationen als Folge einer sportlichen Überbelastung zu vermeiden, ist eine intensive Aufklärung des Patienten über seine Erkrankung besonders wichtig.
Sports in Metabolic Myopathies
The primary hereditary metabolic myopathies are a heterogeneous group of disorders which usually impair muscle energy metabolism. They include defects of glycolysis and glycogenolysis, defects of mitochondrial fatty acid β-oxidation and defects of the mitochondrial respiratory chain. Episodes of metabolic decompensation may lead to rhabdomyolysis in all of these disorders. According to the underlying pathophysiological events, different recommendations regarding exercise have to be made for the various disorders, because in principle any physical exertion can trigger an episode of rhabdomyolysis. On the other hand, muscle strength and endurance are improved by appropriate physical exercise. The patient must be well informed about his disease in order to avoid potentially life-threatening complications due to excessive physical exercise.
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Dr. med. J. Schäfer
Neurologische Klinik der Technischen Universität
Fetscherstraße 74
01307 Dresden
Email: schaefer@rcs.urz.tu-dresden.de
URL: http://www.neuro.med.tu-dresden.de
