Metabolic and mitochondrial myopathies

Neurol Clin. 2014 Aug;32(3):777-99, ix. doi: 10.1016/j.ncl.2014.05.001.


Metabolic and mitochondrial myopathies encompass a heterogeneous group of disorders that result in impaired energy production in skeletal muscle. Symptoms of premature muscle fatigue, sometimes leading to myalgia, rhabdomyolysis, and myoglobinuria, typically occur with exercise that would normally depend on the defective metabolic pathway. But in another group of these disorders, the dominant muscle symptom is weakness. This article reviews the clinical features, diagnosis, and management of these diseases with emphasis on the recent literature.

Keywords: Exercise intolerance; Fatty acid oxidation defects; Glycogen storage diseases; Metabolic myopathies; Mitochondrial myopathies.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Female
  • Glycogen Storage Disease / diagnosis*
  • Glycogen Storage Disease / metabolism
  • Humans
  • Lipid Metabolism Disorders / diagnosis*
  • Lipid Metabolism Disorders / metabolism
  • Mitochondrial Myopathies / diagnosis*
  • Mitochondrial Myopathies / metabolism
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology
  • Muscular Diseases / diagnosis*
  • Young Adult