A natural history study to better understand certain myopathies of mitochondrial origin

Italian researchers studied 117 patients with mitochondrial pathologies with muscle expression.

  • Three groups were formed (purely muscular mitochondriopathy, progressive external ophthalmoplegia [PEO] and mixed)
  • The follow-up was spread over 20 months and included the performance of numerous functional tests (six-minute walk test, Time Up & Go, sitting position test, timed swallowing test, chewing test, etc.)
  • An evaluation of fatigue and pain phenomena completed the study.

It was thus possible to determine evolutionary profiles specific to each subgroup for future therapeutic trials.

 

Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohort. Montano V, Lopriore P, Gruosso F, et al. J Neurol. 2022 Aug 18:1–11.