An update on diagnosis and therapy of metabolic myopathies. (2nd December 2018)

• Record Type: Journal Article
• Authors: Finsterer, Josef
• Is Part Of: Expert review of neurotherapeutics. Volume 18:Number 12(2018)
• Page Start: 933
• Page End: 943
• Publication Date: 2018-12-02
• Subjects: Metabolism -- muscle -- metabolic pathways -- neuromuscular -- enzyme replacement therapy -- genetics; Neuropharmacology -- Periodicals; 615.7805
• DOI: 10.1080/14737175.2018.1550360
• Languages: English
• ISSNs: 1473-7175

Abstract

ABSTRACT: Introduction : 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.