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Riboflavin-responsive lipid-storage myopathy in elderly patients.

Menachem Sadeh1, Amir Dory2, Dorit Lev3

  • 1Edith Wolfson Medical Center, Department of Neurology, Holon, Faculty of Medicine, Tel Aviv University, Israel.

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Summary

Elderly patients experiencing progressive muscle weakness may have riboflavin-responsive lipid storage myopathy. Muscle biopsy and genetic testing are crucial for diagnosing this treatable condition in older adults.

Keywords:
CarnitineETFDHGenetic analysisLipid storage myopathyRiboflavin

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Area of Science:

  • Neurology
  • Genetics
  • Metabolic Disorders

Background:

  • Lipid storage myopathies are rare, particularly in elderly individuals.
  • Riboflavin (vitamin B2) responsiveness is documented in some genetic metabolic myopathies.

Purpose of the Study:

  • To describe three elderly patients with riboflavin-responsive lipid storage myopathy.
  • To highlight the diagnostic utility of muscle biopsy in identifying treatable myopathies in older adults.

Main Methods:

  • Clinical case series of three elderly patients (67-71 years) presenting with subacute proximal muscle weakness.
  • Muscle biopsy analysis revealing lipid vacuoles predominantly in type 1 muscle fibers.
  • Genetic analysis of ETFDH gene in affected patients.

Main Results:

  • All patients exhibited progressive weakness, including neck extensors and proximal limbs, leading to mobility impairment.
  • Muscle biopsies confirmed lipid accumulation within muscle fibers.
  • Genetic analysis revealed variants in the ETFDH gene in two patients, with one likely pathogenic.
  • All three patients showed significant strength recovery following treatment with riboflavin and carnitine.

Conclusions:

  • Riboflavin-responsive lipid storage myopathy can occur in elderly patients, presenting as progressive proximal weakness.
  • Muscle biopsy is essential for diagnosing lipid storage myopathy when the cause is initially unclear.
  • Early diagnosis and treatment with riboflavin can lead to substantial recovery of muscle function in affected elderly individuals.