Feasible and clinical relevant outcome measures for adults with mitochondrial disease

Peggy M J Bergs; Daphne M Maas; Mirian C H Janssen; Jan T Groothuis

doi:10.1016/j.ymgme.2021.12.010

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.

Authors

Peggy M J Bergs¹, Daphne M Maas², Mirian C H Janssen³, Jan T Groothuis⁴

Affiliations

¹ Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Department of Rehabilitation, Nijmegen, the Netherlands; Radboud Center for Mitochondrial Medicine, Department of Internal Medicine, Radboud university medical center, Nijmegen, the Netherlands.
² Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Department of Rehabilitation, Nijmegen, the Netherlands; Radboud Center for Mitochondrial Medicine, Department of Rehabilitation, Radboud university medical center, Nijmegen, the Netherlands.
³ Radboud Center for Mitochondrial Medicine, Department of Rehabilitation, Radboud university medical center, Nijmegen, the Netherlands; Radboud Center for Mitochondrial Medicine, Department of Internal Medicine, Radboud university medical center, Nijmegen, the Netherlands.
⁴ Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Department of Rehabilitation, Nijmegen, the Netherlands; Radboud Center for Mitochondrial Medicine, Department of Rehabilitation, Radboud university medical center, Nijmegen, the Netherlands. Electronic address: Jan.Groothuis@radboudumc.nl.

PMID: 34961688
DOI: 10.1016/j.ymgme.2021.12.010

Abstract

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