Therapie metabolischer Myopathien

Zusammenfassung

Metabolische Myopathien sind seltene Erbkrankheiten die primär die Muskulatur betreffen und hauptsächlich auf Störungen des muskulären Energiestoffwechsels beruhen. Das Krankheitsspektrum beinhaltet Störungen der Fettsäurenoxidation, der Glykogenbzw. Glykolyse und der mitochondrialen Atmungskette des Muskels. Klinisch manifestieren sich diese Erkrankungen mit einer Reihe von Symptomen wie infantile Hypotonie, Myalgien, Belastungsintoleranz, chronische oder akute Muskelschwäche, Muskelkrämpfen und Spasmen bis hin zu schwerwiegenden Komplikationen, meist der fulminanten Rhabdomyolyse. Durch verbesserte Untersuchungsalgorithmen und Einsatz neuer Techniken wie der Next-Generation-Sequenzierung werden einzelne Erkrankungen frühzeitiger diagnostiziert. Dieser Umstand ermöglicht den frühen Einsatz hochwirksamer Therapien wie bei der Pompe-Krankheit. In diesem Beitrag sollen anhand ausgewählter praxisrelevanter Erkrankungen aus dem breiten Spektrum der metabolischen Myopathien die wesentlichen Prinzipien des therapeutischen Managements dargestellt werden.

Summary

Metabolic myopathies are a group of rare inherited disorders, primarily affecting the muscles and mainly caused by dysfunctions of the muscular energy metabolism. The disease spectrum includes disorders of the fatty acid oxidation, glycogenosis or glycolysis and the mitochondrial respiratory chain of the muscle. Clinically, these diseases manifest with a variety of symptoms such as infantile hypotonia, myalgia, exercise intolerance, chronic or acute muscle weakness, muscle cramps or spasms up to serious complications including fulminant rhabdomyolysis. Improved diagnostic algorithms and the use of new technologies such as next-generation sequencing enable earlier diagnostic in individual cases allowing earlier use of highly effective therapies, e. g. Pompe’s disease. This paper describes the main therapeutic options based on selected practical-relevant diseases from the broad spectrum of metabolic myopathies.

Schlüsselwörter

Glykogenspeichererkrankungen, Lipidspeichermyopathien - metabolische Myopathien - Myalgien

Keywords

Glycogen storage disease - lipid storage disease - metabolic myopathies - myalgia

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