To avoid muscle wasting, physical activity recommendations should be made for the late-onset phenotype and in the early stages of the disease for the adult phenotype. MMT is not recommended for use in clinical trials. Muscle Nerve 56: 57-63, 2017.

Myotonic dystrophy type 1 (DM1) is a neuromuscular disorder presenting with major muscle impairments. However, few studies have addressed muscle strength progression using quantitative methods. The aims of this study were to document muscle strength changes in eight muscle groups among adults with DM1 over a 9-year period, and to compare this progression between phenotypes (adult and late-onset) and sex. Patients with a genetic diagnosis of DM1 with the late-onset or the adult phenotype were recruited at baseline through the clinical registry of the Saguenay Neuromuscular Clinic. The maximum isometric muscle strength was measured at baseline and 9 years later using a standardized protocol of quantitative muscle testing. Muscle groups included were shoulder abductors, elbow flexors/extensors, wrist extensors, hip flexors, knee flexors/extensors, and ankle dorsiflexors. For the whole group, a mean loss of 24.5-52.8% was observed over the 9-year period for all muscle groups, except for hip flexors which remained stable. Generally, men were stronger and showed a significant greater rate of decline of muscle strength than women. The adult and late-onset phenotypes taken separately also showed a significant and similar decline over the 9-year period, except for the wrist and knee extensors where muscle strength of participants with the adult phenotype decreased faster than in the late-onset phenotype. The similar rate of decline of muscle strength loss observed between phenotypes highlights the need to develop interventions to prevent this decline, even for patients with the late-onset phenotype who are often considered as mildly impaired, and therefore neglected by the rehabilitation services.

The performance-based outcome measures captured changes over the 9-year period and responsiveness was promising. Knowledge of measurement errors is needed to interpret the meaning of these longitudinal changes.

Although less impaired, the late-onset phenotype shows significant lower limb muscle weakness associated with physical limitations. The surprising presence of quantitative lower limb muscle weakness in the first two MIRS grades needs to be considered when using this scale. Both ankle dorsiflexors and knee extensors appear to be good indicators of physical limitations in DM1.

In myotonic dystrophy type 1 (DM1), leg muscle weakness is a major impairment. There are challenges to obtaining a clear portrait of muscle strength impairment. A systematic literature review was conducted on lower limb strength impairment in late-onset and adult phenotypes to document variables which affect strength measurement. Thirty-two articles were reviewed using the COSMIN guidelines. Only a third of the studies described a reproducible protocol. Only 2 muscle groups have documented reliability for quantitative muscle testing and only 1 total score for manual muscle testing. Variables affecting muscle strength impairment are not described in most studies. This review illustrates the variability in muscle strength assessment in relation to DM1 characteristics and the questionable validity of the results with regard to undocumented methodological properties. There is therefore a clear need to adopt a consensus on the use of a standardized muscle strength assessment protocol.