Sporadische adulte Form der Nemalinmyopathie – eine schwierige Differenzialdiagnose

Zusammenfassung

Wir berichten über eine 79-jährige Patientin mit seit 12 Jahren zunehmender proximal betonter Schwäche in Beinen und Armen sowie muskelkaterartigen Schmerzen im Becken- und Schultergürtelbereich. Die Kreatinkinase war leichtgradig erhöht (242 U/l). Die mittels MRT der unteren Extremitäten geplante Biopsie ergab den seltenen Befund einer adulten Nemalinmyopathie.

Abstract

We report on a 79 years old female patient with slowly progressive painful weakness of the proximal upper and lower limbs. CK was slightly elevated (242 U 7 l). MRI guided biopsy of the proximal lower limbs revealed the rare findings of nemaline myopathy.

Schlüsselwörter

Nemalinmyopathie - klinisches Erscheinungsbild - MRT - Biopsieplanung

Key words

nemaline myopathy - clinical features - MRI guided biopsy

Literatur

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