Rationale Diagnostik und Therapie von Myopathien

Zusammenfassung

Myopathien kommen in der neurologischen Versorgung zwar regelmäßig vor, stellen den behandelnden Arzt aber aufgrund des höchst unterschiedlichen Spektrums an Symptomen, Behandlungs- und Versorgungsmöglichkeiten oftmals vor eine besondere Herausforderung. Sie benötigen nicht nur ein für den Patienten individuell angepasstes Therapieregime, sondern auch aufgrund wachsender Kenntnis über Erkrankungsausmaß und mitbeteiligter Organe die enge Zusammenarbeit mit weiteren Fachdisziplinen. Die initiale Diagnostik sollte primär zwischen erblicher und erworbener Muskelerkrankung unterscheiden, da sich für beide Formen unterschiedliche erkrankungsspezifische Behandlungsalgorithmen ergeben. Diagnostisch haben neben ausführlicher Anamnese und Familienanamnese weiterhin laborchemische Untersuchungen (CK), die Elektromyografie und die Muskelbiopsie wichtigen Stellenwert, zudem haben sich bildgebende Verfahren wie das MRT und die Myosonografie und die molekulare Genetik etabliert.

Summary

Myopathies are frequent in clinical practice, and their variability in clinical symptoms is high which needs in most cases an individual approach for treatment and care. With increasing knowledge of the spectrum of myopathies and their clinical course and multisystem affection, myopathies have to be treated by a multiprofessional team approach consisting of physicians and therapists of different specialities. As tailor-made therapeutic regimes have to be followed deciphering between acquired and hereditary diseases is important as first step. Personal and family medical history, laboratory assessments with CK, electromyography and imaging (MRI and ultrasound), and molecular genetics are leading diagnostic tools to identify different types of myopathies.

Schlüsselwörter

Myopathie - Muskeldystrophie - Myositis - Glykogenspeichererkrankung

Keywords

Myopathy - muscular dystrophy - myositis - glycogen storage diseases

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