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Lipid Myopathies.

Elena Maria Pennisi1, Matteo Garibaldi2, Giovanni Antonini3

  • 1Unit of Neuromuscular Disorders, Neurology, San Filippo Neri Hospital, 00135 Rome, Italy. elenapennisi@gmail.com.

Journal of Clinical Medicine
|November 28, 2018
PubMed
Summary
This summary is machine-generated.

Lipid myopathies are rare genetic disorders affecting muscle tissue, presenting diverse symptoms from fatigue to rhabdomyolysis. This review revises classifications and includes fatty acid oxidation disorders with muscular symptoms.

Keywords:
FAO defectbeta-oxidation defectslipid metabolism disorderslipid myopathieslipid storage diseasemetabolic myopathiesmuscle lipidosis

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Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Lipid metabolism disorders frequently impact skeletal and cardiac muscle.
  • Lipid myopathies (LM) are rare, often genetic, multisystemic diseases with varied clinical presentations.
  • Symptoms range from fatigue and exercise intolerance to acute rhabdomyolysis crises.

Purpose of the Study:

  • To revise and consolidate classifications of lipid myopathies.
  • To include disorders of fatty acid oxidation (FAO) with muscular symptoms not previously categorized as LM.
  • To provide a comprehensive overview of muscle involvement in lipid metabolism disorders.

Main Methods:

  • Literature review and synthesis of existing classifications.
  • Inclusion of genetic defects and biochemical pathways.
  • Analysis of clinical, biochemical, and histopathological findings.

Main Results:

  • LM exhibit a wide spectrum of clinical manifestations and onset ages.
  • Genetic defects are the most common cause of LM.
  • Proposed revision integrates FAO disorders with muscular symptoms into the LM spectrum.

Conclusions:

  • A unified classification of lipid metabolism disorders affecting muscle is needed.
  • Comprehensive understanding aids in diagnosis and management of these rare diseases.
  • Further research into FAO disorders with muscular symptoms is warranted.