Development of a Mitochondrial Myopathy-Composite Assessment Tool.

ABSTRACT:

Background

'Mitochondrial Myopathy' (MM) refers to genetically-confirmed Primary Mitochondrial Disease (PMD) that predominantly impairs skeletal muscle function. Validated outcome measures encompassing core MM domains of muscle weakness, muscle fatigue, imbalance, impaired dexterity, and exercise intolerance do not exist. The goal of this study was to validate clinically-meaningful, quantitative outcome measures specific to MM.

Methods

This was a single centre study. Objective measures evaluated included hand-held dynamometry, balance assessments, Nine Hole Peg Test (9HPT), Functional Dexterity Test (FDT), 30 second Sit to Stand (30s STS), and 6-minute walk test (6MWT). Results were assessed as z-scores, with < -2 standard deviations considered abnormal. Performance r

SUBMITTER: Flickinger J 

PROVIDER: S-EPMC8782422 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature