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McArdle-Syndrom (Myopathie bei fehlender Muskelphosphorylase)

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Zusammenfassung

Berichtet wird über eine 46jährige Frau mit McArdlescher Myopathie, einem erblichen Defekt der Muskelphosphorylase. Das Vorkommen der gleichen Erkrankung bei der Mutter läßt im Gegensatz zu den bisher beschriebenen 14 Fällen an eine dominante Vererbung denken. Für einen genetisch bedingten Enzymdefekt wäre ein solcher Erbgang ungewöhnlich. Erstmalig sind Auswirkungen dieser Krankheit auf die generativen Funktionen der erwachsenen Frau zu vermuten: bei Mutter und Tochter trat eine Uterusinsuffizienz während des Partus auf. Mit einem Defekt in Teilen der glatten Muskulatur muß gerechnet werden. Diskutiert wird ebenfalls die Möglichkeit einer Herzmuskelbeteiligung.

Der Phosphorylasedefekt wurde histo- und biochemisch nachgewiesen. Licht- und elektronenmikroskopisch fand sich eine vermehrte Glykogenanreicherung in der Skeletmuskulatur, darüber hinaus Hinweise auf degenerative Veränderungen einzelner Muskelfasern. Von 28 Enzymen wurden Aktivitätsgehalte im M. quadriceps gemessen. Dabei konnten im Vergleich zu einem gesunden Rückenmuskel mit Ausnahme der Phosphorylase keine weiteren Enzymdefekte festgestellt werden.

Der Vergleich der Enzymaktivitäten beider Muskeln deckte Unterschiede im Enzymmuster auf, wie sie aus Tieruntersuchungen für tetanische bzw. tonische Skeletmuskeln bekannt sind. Daraus ergibt sich ein besseres Verständnis für die unterschiedliche funktionelle Auswirkung des Phosphorylasedefektes in verschiedenen Muskelgruppen.

Summary

Report on a 46 year old woman suffering from theMcArdle type of myopathy, an inherited defect of muscle phosphorylase. The same disease in mother and daughter might bring into consideration the question of a dominant inheritance which is unusual with respect to hitherto reported cases of the literature. The first time, an effect of this disease on delivery is described: mother and daughter both demonstrated primary insufficiency of the uterine muscle. Hence, smooth muscles must be at least partly affected. In addition, clinical symptoms possibly indicate the involvement of cardiac muscle, i.e. a defect of heart muscle phosphorylase. In skeletal muscle the defect of phosphorylase was demonstrated histochemically and by direct activity determinations. The increase of glycogen in the skeletal muscles was demonstrated quantitatively as well as qualitatively by light and electron microscopy. Morphological investigations revealed degenerative alterations of single muscle fibers. The activities of 28 enzymes of the energy-supplying metabolism were measured in biopsy material of the m. quadriceps. Except for the absence of phosphorylase, no principle difference was found in comparison with the enzyme activity pattern of m. erector trunci in a healthy subject. The more detailed comparison of the enzyme activity patterns in the two muscles of the patient and the healthy subject disclosed in the enzyme patterns differences as they are known to be typical of slow and fast fibers. These differences between m. quadriceps and m. erector trunci are related to the different distribution of slow and fast fibers. This enlightens our knowledge of the functionally different effect of the lack of phosphorylase in different types and groups of muscles.

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Authors and Affiliations

  1. Neurologische Klinik und Chemische Abteilung des Allgemeinen Krankenhauses Hamburg-Heideberg, Anatomisches Institut der Universität Hamburg, Germany

    K. Schimrigk, H. G. Mertens, K. Ricker, J. Führ, P. Eyer & D. Pette

  2. Physiologisch-Chemisches Institut der Universität München, Germany

    K. Schimrigk, H. G. Mertens, K. Ricker, J. Führ, P. Eyer & D. Pette

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  1. K. Schimrigk
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  2. H. G. Mertens
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  3. K. Ricker
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Schimrigk, K., Mertens, H.G., Ricker, K. et al. McArdle-Syndrom (Myopathie bei fehlender Muskelphosphorylase). Klin Wochenschr 45, 1–17 (1967). https://doi.org/10.1007/BF01745732

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