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Hypotheses and recent findings concerning aetiology and pathogenesis of the muscular dystrophies

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Summary

The survey reports recent findings and current hypotheses on the aetiology and pathogenesis of the muscular dystrophies. Briefly presented are (1) biochemical anomalies of structure and metabolism, (2) membrane defects, (3) the neural hypothesis, (4) the vascular hypothesis, and (5) the connective tissue hypothesis. At present, research interest is focused primarily on membrane structure and biochemistry, on neural muscle trophism, and on the genetic aspects of abnormalities in molecular biology.

Whether the progressive muscular dystrophies are primary disorders of voluntary muscle or whether the primary alteration is located outside of the muscle still remains unknown.

Zusammenfassung

Die Übersicht informiert über die wesentlichen derzeit vertretenen Hypothesen und über neue Befunde zur Ursache und Pathogenese der progressiven Muskeldystrophien. Kurz dargestellt werden 1. die biochemischen Anomalien der Struktur und des Stoffwechsels, 2. Membrandefekte, 3. die neurale Hypothese, 4. die vasculäre Hypothese und 5. die Bindegewebshypothese. Im Vordergrund des augenblicklichen Interesses stehen die Struktur und Biochemie der Membranen, die nervale Muskeltrophik und genetisch-molekularbiologische Aspekte.

Die Frage, ob die progressiven Muskeldystrophien primäre Erkrankungen der Muskulatur sind oder ob die primären Veränderungen extramuskulär lokalisiert sind, ist aufgrund der derzeitigen Kenntnisse nicht klar zu beantworten.

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  1. Neurologische Klinik und Neurologische Poliklinik der Universität Zürich, Switzerland

    F. Jerusalem

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Jerusalem, F. Hypotheses and recent findings concerning aetiology and pathogenesis of the muscular dystrophies. J. Neurol. 213, 155–162 (1976). https://doi.org/10.1007/BF00312866

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