Feasible and clinical relevant outcome measures for adults with mitochondrial disease

Mol Genet Metab. 2022 Jan;135(1):102-108. doi: 10.1016/j.ymgme.2021.12.010. Epub 2021 Dec 22.


There is no consensus on clinical outcome measures that reflect function, activities and participation which are suitable for adults with mitochondrial diseases (MD). The aim of this study was to determine feasible and clinically relevant outcome measures for patients with MD . In 156 adult patients with MD, endurance, balance, strength and mobility tests were evaluated. All tests showed a negative deviation to healthy reference values. Balance tests were feasible and significantly correlated with clinical severity. The Åstrand cycle test was not feasible in 55%, whereas the feasibility of the 6 min walking test is unclear in patients with MD.

Keywords: Adults; Mitochondrial disease; Outcome measures; Physical therapy.

MeSH terms

  • Adult
  • Humans
  • Mitochondrial Diseases* / genetics
  • Mitochondrial Diseases* / therapy
  • Outcome Assessment, Health Care*
  • Walk Test