Diagnose von Myopathien

Zusammenfassung

Auch wenn die Abklärung von Myopathien oft schwierig ist, sollte aus medizinischen und finanziellen Gründen bei gegebenem Verdacht eine Abklärung durchgeführt werden. Die Myopathiediagnostik basiert auf individueller Anamnese, Familienanamnese, Status, blutchemischen Untersuchungen in Ruhe und unter Belastung, elektrophysiologischen Untersuchungen, dem Muskel-MR, der Muskelbiopsie, dem Koffein-Halothan-Kontraktur-Test sowie genetischen Untersuchungen. Muskelenzyme sind als Screening hilfreich, können aber auch normal sein bzw. undulieren. Wiederholten symptomatischen Erhöhungen von Muskelenzymen sollte nachgegangen werden. Bei metabolischen Myopathien können spezielle Belastungstests die weitere Richtung für die Diagnostik vorgeben. Die Nadel-Elektromyografie kann bei Myopathien normal sein oder myogene, neurogene oder unspezifische Befunde zeigen. Mittels MR kann nicht nur die Verteilung betroffener Muskelgruppen erhoben werden, sondern auch der Grad trophischer Störungen quantifiziert werden. Die Muskelbiopsie wird hinsichtlich lichtmikroskopischer, elektronenmikroskopischer, biochemischer oder genetischer Veränderungen ausgewertet. Nur bei begründetem Verdacht auf eine Mutation in einem bestimmten Gen und Kenntnis des Vererbungsmodus sollte eine genetische Abklärung versucht werden. Der Nachweis der pathogenen Mutation erlaubt eine effiziente genetische Beratung, Prognoseerstellung und optimale Therapieplanung. Die Diagnose einer primären Myopathie erfordert immer auch eine Untersuchung der Familienmitglieder. Die Abklärung von Myopathien sollte wegen der diagnostischen, therapeutischen und prognostischen Implikationen so rasch und gründlich wie möglich erfolgen.

Abstract

Although the diagnostic work-up for myopathies can be difficult, it should be carried out for medical and financial reasons if the suspicion is supported by evidence. The diagnosis is based on the history, neurological investigation, blood chemical investigations at rest and under stress, electromyography, muscle MRI, biopsy, the in-vitro coffeine-halothan contracture test, and molecular genetic studies. There is some role for muscle enzyme determinations in the diagnostic work-up, although these values are frequently multifactorial. However, if muscle enzymes are repeatedly increased without explanation but in the presence of muscular symptoms, the diagnostic work-up should be initiated. Stress tests can be of some additional help. Needle electromyography may be normal, myogenic, neurogenic or non-specifically abnormal. Muscle MRI may show trophic disturbances, and may guide one to the muscle most adequate for biopsy. A muscle biopsy may be taken for a number of further investigations and may lead to the correct diagnosis. Only if there is a profound suspicion for a certain genetic defect, molecular genetic investigations should be initiated. In the case that a pathogenic mutation is found, genetic counselling, and assessment of the prognosis, and therapy can be initiated. For diagnostic, therapeutic and prognostic implications, diagnostic work-up should be carried out as soon as possible if myopathy is suspected.

Muskelkrankheit - neuromuskuläre Erkrankung - peripheres Nervensystem - Muskelbiopsie - Genetik - Behinderung

muscle disease - neuromuscular disorder - peripheral nervous system - muscle biopsy - genetics - disability

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