An update on diagnosis and therapy of metabolic myopathies

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.

KEYWORDS:

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

Declaration of interest

The author has no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

Reviewer disclosures

Peer reviewers on this manuscript have no relevant financial or other relationships to disclose.

Additional information

Funding

This manuscript was not funded.