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Metabolisch und hormonell bedingte Myopathien

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Pathologie
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Zusammenfassung

Hier sind unter den Kohlenhydratstoffwechselstörungen die Glykogenosen, die Polyglukosankörperkrankheiten (Glykogenose Typ IV), die Danon-Krankheit und Störungen der Glykolyse abzugrenzen. Die große Zahl maternal und nukleär vererbter mitochondrialer Myopathien ist nur noch mit digitalen Verarbeitungsmethoden zu übersehen. Bei dem Myoadenylat-Deaminase-(MAD-)Mangel wird demgegenüber der Krankheitswert bezweifelt. Unter den 10 bekannten Lipidspeichermyopathien finden sich nur 4 Krankheitsbilder mit einer ausgeprägten Lipidspeicherung in den Muskelfasern, die auf Mutationen in 6 Genen beruhen. Weitere abgrenzbare Myopathien sind auf endokrine Erkrankungen z. B. der Schilddrüse (Hyper- oder Hypoparathyreoidismus) oder Hypophysenfunktionsstörungen zurückzuführen. Auch Dopingeffekte und Diabetes mellitus sind mit morphologischen Veränderungen verbunden.

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Schröder, J. (2012). Metabolisch und hormonell bedingte Myopathien. In: Klöppel, G., Kreipe, H., Remmele, W., Paulus, W., Schröder, J. (eds) Pathologie. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-02324-8_33

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