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Diagnose und Therapie der kongenitalen Myastheniesyndrome

Diagnosis and treatment of congenital myasthenic syndrome

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Zusammenfassung

Bei diagnostisch unklarer Muskelschwäche muss ein kongenitales Myastheniesyndrom erwogen werden. Bis zum Schulkindalter ist die klinische Diagnostik schwer durchführbar. Beim älteren Kind können aus der klinischen und elektromyographischen Befunderhebung sowie aus den Ergebnissen der Endplattenmorphologie die einzelnen kongenitalen Myastheniesyndrome sicher differenziert werden. Ein Algorithmus zur klinischen Diagnose wird vorgestellt. Bei den vielfältigen zugrunde liegenden Mutationen ist vor einer molekulargenetischen Untersuchung eine möglichst genaue klinische Zuordnung des Myastheniesyndroms erforderlich. Häufigste Ursache dieser angeborenen Endplattenerkrankungen sind Mutationen im Gen für die ε-Untereinheit des muskulären Azetylcholinrezeptors. Teilweise besteht die Möglichkeit einer gezielten Pharmakotherapie, wie dem Einsatz von Chinidin beim Slow-channel-Syndrom.

Abstract

In any case of unclear muscular weakness, the possibility of congenital myasthenic syndrome should be considered. The diagnostic work-up is hindered in younger children until school age. However, in older children the clinical presentation, electromyographic testing, and endplate morphology give clues for exactly determining the different congenital myasthenic syndromes. We present an algorithm for the clinical diagnosis of the congenital myasthenic syndromes. The exact clinical diagnosis facilitates screening for the wide variety of underlying mutations in these disorders. Additionally, precise diagnosis allows specific and effective therapy in some of the congenital myasthenic syndromes. For instance, quinidine significantly improves muscular weakness in the slow channel syndrome.

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Authors and Affiliations

  1. Klinik für Neurologie, Geriatrie und Palliativmedizin, Hanse-Klinikum , Stralsund, Deutschland

    J. P. Sieb

  2. Physiologisches Institut, Universitätsklinikum Bonn, Rheinische Friedrich-Wilhelms-Universität, Bonn, Deutschland

    M. Hans & D. Swandulla

  3. Pädiatrisches Zentrum, Olgahospital, Stuttgart, Deutschland

    K. Marquard

  4. Institut für Humangenetik, Universitätsklinikum Bonn, Rheinische Friedrich-Wilhelms-Universität, Bonn, Deutschland

    O. K. Steinlein

  5. Klinik für Neurologie, Geriatrie und Palliativmedizin, Hanse-Klinikum, Postfach 2341, 18410, Stralsund, Deutschland

    J. P. Sieb

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  1. J. P. Sieb
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  2. M. Hans
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  3. D. Swandulla
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Correspondence to J. P. Sieb.

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Sieb, J.P., Hans, M., Swandulla, D. et al. Diagnose und Therapie der kongenitalen Myastheniesyndrome . Monatsschr Kinderheilkd 153, 453–462 (2005). https://doi.org/10.1007/s00112-003-0874-z

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