Riboflavin-responsive lipid-storage myopathy in elderly patients

Menachem Sadeh*, Amir Dory, Dorit Lev, Keren Yosovich, Ron Dabby

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

There are scarce reports of riboflavin-responsive lipid storage myopathy in elderly patients with onset in their sixties. We describe three elderly patients with riboflavin-responsive lipid-storage myopathy. All three patients (aged 67–71 years on first examination) had subacute onset of neck extensors and proximal limb weakness progressing to inability to rise from a sitting position or to walk. Muscle biopsies showed vacuoles with lipid content, mainly in type 1 fibers. Genetic analysis failed to identify any pathogenic variant in one patient, identified a heterozygous variant of uncertain significance c.812 A > G; p.Tyr271Cys in the ETFDH gene in the second patient, and revealed a heterozygote likely pathogenic variant c.1286-2 A > C in the ETFDH gene predicted to cause abnormal splicing in the third patient. All patients responded to treatment with riboflavin and carnitine, and regained normal strength. This report emphasizes the importance of muscle biopsy in revealing treatable lipid storage myopathy in elderly patients with progressive myopathy of unidentifiable cause.

Original languageEnglish
Article number122808
JournalJournal of the Neurological Sciences
Volume456
DOIs
StatePublished - 15 Jan 2024

Keywords

  • Carnitine
  • ETFDH
  • Genetic analysis
  • Lipid storage myopathy
  • Riboflavin

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