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Expert Rev Neurother. 2018 Dec;18(12):933-943. doi: 10.1080/14737175.2018.1550360. Epub 2018 Nov 27.

An update on diagnosis and therapy of metabolic myopathies.

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a Krankenanstalt Rudolfstiftung, Messerli Institute , Veterinary University of Vienna , Vienna , Austria.


Metabolic myopathies are a heterogeneous group of disorders characterized by inherited defects of enzymatic pathways involved in muscle fiber energetics. Diagnosing metabolic myopathies requires a thoroughly taken individual and family history, a meticulous neurologic exam, exercise tests, blood and urine tests, needle-electromyography, nerve-conduction studies, muscle biopsy, targeted genetic tests, or next-generation sequencing. There is limited evidence from the literature to guide treatment of metabolic myopathies. Treatment is largely limited to non-invasive/invasive symptomatic measures. However, promising results have been achieved with enzyme replacement therapy in Pompe disease (GSD-II). Primary coenzyme-Q deficiency responds favorably to coenzyme-Q supplementation. MNGIE responds to allogeneic hematopoietic stem cell transplantation, orthotopic liver transplantation, and carrier erythrocyte entrapped thymidine phosphorylase enzyme therapy. MADD may respond to riboflavin. Areas covered: This review aims to summarize and discuss recent findings and new insights concerning diagnosis and treatment of metabolic myopathies. Expert commentary: Except for GSD-II, coenzyme-Q deficiency, and MNGIE, treatment of metabolic myopathies is usually palliative and supportive (non-invasive or invasive). Non-invasive symptomatic treatment includes physiotherapy, diet, administration of drugs, conservative orthopedic measures, and respiratory non-invasive support. Important is the avoidance of triggers for episodic forms of fatty acid oxidation disorders. Invasive measures include orthopedic surgery and invasive mechanical ventilation.


Metabolism; enzyme replacement therapy; genetics; metabolic pathways; muscle; neuromuscular

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