Mitochondriale Myopathien

Zusammenfassung

Das Organ, das am häufigsten im Rahmen von mitochondrialen Erkrankungen betroffen ist, ist die Skelettmuskulatur (mitochondriale Myopathie). Mitochondriale Myopathien treten sowohl bei syndromatischen als auch nicht syndromatischen mitochondrialen Erkrankungen auf. Die Beteiligung der Skelettmuskulatur kann subklinisch verlaufen, als isolierte Kreatinkinase-Erhöhung manifestieren oder zu Paresen und Atrophien einer, mehrerer oder aller Muskelgruppen führen. Mitochondriale Myopathien verlaufen meist langsam progredient und selten rasch progredient mit Einschränkung der Mobilität bis hin zur Rollstuhlpflicht und muskulären Ateminsuffizienz. Häufige Symptome sind ständige Müdigkeit, rasche Ermüdbarkeit und Muskelkater nach geringer Belastung, Muskelkrämpfe, Muskelsteifigkeit, Muskelzuckungen und Muskelschwäche. Die Diagnose basiert auf Anamnese, Neurostatus, Blutchemie, Laktatbelastungstest, Elektromyografie, MR und MR-Spektroskopie, Muskelbiopsie, biochemischer Untersuchung des Skelettmuskels und genetischer Abklärung. Die Therapie ist symptomatisch und umfasst Physiotherapie und orthopädische Behelfe, Diät, symptomatische medikamentöse Therapie (Analgetika, krampflösende Substanzen, Antioxidantien, Laktat-vermindernde Medikamente, alternative Energiequellen, Kofaktoren), die Vermeidung Mitochondrien-toxischer Medikamente, chirurgische Maßnahmen (Ptosekorrektur, orthopädische Korrekturen) und die invasive bzw. nicht invasive Beatmungstherapie. Allgemeinnarkosen müssen wie bei Patienten mit Suszeptibilität für maligne Hyperthermie gestaltet werden.

Abstract

The organ most frequently affected in mitochondrial disorders is the skeletal muscle (mitochondrial myopathy). Mitochondrial myopathies may be part of syndromic as well as non-syndromic mitochondrial disorders. Involvement of the skeletal muscle may remain subclinical, may manifest as isolated elevation of the creatine-kinase, or as weakness and wasting of one or several muscle groups. The course of mitochondrial myopathies is usually slowly progressive and only rarely rapidly progressive leading to restriction of mobility and requirement of a wheel chair or even muscular respiratory insufficiency. Frequently reported symptoms of mitochondrial myopathies are permanent tiredness, easy fatigability, muscle aching at rest or already after moderate exercise, muscle cramps, muscle stiffness, fasciculations and muscle weakness. The diagnosis is based on the history, clinical neurologic examination, blood chemical investigations, lactate stress test, electromyography, magnetic resonance imaging, magnetic resonance spectroscopy, muscle biopsy, biochemical investigations of the skeletal muscles, and genetic investigations. Only symptomatic therapy is available and includes physiotherapy and orthopedic supportive devices, diet, symptomatic drug therapy (analgetics, cramp-releasing drugs, antioxidants, lactate-lowering drugs, alternative energy sources, co-factors), avoidance of mitochondrion-toxic drugs, surgery (correction of ptosis or orthopedic problems), and invasive or non-invasive mechanical ventilation. General anesthesia needs to be performed in the same way as in patients with susceptibility for malignant hyperthermia.

Myopathien - Muskelkrankheit - neuromuskuläre Erkrankung - Stoffwechseldefekt - metabolische Myopathie - Skelettmuskel

myopathies - muscle disease - neuromuscular disorder - metabolic defect - metabolic myopathy - skeletal muscle

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