Differenzialdiagnostik metabolischer Myopathien

Zusammenfassung

Typische Kennzeichen von metabolischen Myopathien sind belastungsinduzierte Muskelschmerzen, Muskelverkrampfungen, Belastungsintoleranz, Muskelschwäche und Rhabdomyolyse bzw. Myoglobinurie. In einigen Fällen liegt auch eine proximal betonte Myopathie mit manifesten Paresen vor. Andere Organmanifestationen, wie Kardiomyopathie, Neuropathie oder ZNS-Beteiligung können vorhanden und differenzialdiagnostisch hilfreich sein. Die Erkrankungen können den Purin-, Glucose- und Glycogen- sowie den Lipidstoffwechsel und die mitochondriale Atmungskette betreffen. Ziel dieses Artikels ist es, die Abgrenzung der einzelnen metabolischen Myopathien untereinander und zu anderen hereditären und den entzündlichen Muskelerkrankungen zu erleichtern.

Abstract

Typical symptoms of metabolic myopathies are exertion-induced muscle pain, muscle cramps, exercise intolerance, muscle weakness and rhabdomyolysis or myoglobinuria. In some diseases, myopathy is associated with permanent proximal muscle weakness. Cardiomyopathy, neuropathy or CNS manifestation may be present and point to the underlying disease. The diseases can affect purine metabolism, glucose and glycogen metabolism, lipid metabolism and the mitochondrial respiratory chain. The aim of this manuscript is to facilitate the distinction between the individual metabolic myopathies as well as between metabolic myopathies and other inherited or inflammatory muscle diseases.

Schlüsselwörter

metabolische Myopathie - Muskelschmerz - intermittierende Myoglobinurie

Key words

metabolic myopathy - muscle pain - intermittent myoglobinuria

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