COSMIN database

Review of patient-reported outcome measures for use in myotonic dystrophy type 1 patients

Symonds, T., Randall, J. A., and Campbell, P.
INTRODUCTION: The heterogeneity of symptoms experienced by myotonic dystrophy type 1 (DM1) patients means patient-reported outcome (PRO) assessments are uniquely suited to address this through questionnaires.

METHODS: A structured literature review of PRO measures used in DM1 populations, comparing psychometric data from this population was undertaken.

RESULTS: One health status measure, 3 activities of daily living (ADL) scales, 3 health-related quality of life (HRQOL) assessments, and 5 sleep and fatigue measures have validity and reliability information from DM1 populations. The Myotonic Dystrophy Health Index and DM1 Activity and Participation Scale (DM1-Activ) have the strongest validity and reliability evidence. The DM1-Activ(c) has been published recently and builds on the DM1-Activ by adding more relevant items.

CONCLUSIONS: The PRO instruments we identified have varying psychometric evidence in DM1 populations; all require further testing to be confident of their ability to make accurate and valid measurements of symptoms, HRQOL, and ADL in a DM1 population. Muscle Nerve 56: 86-92, 2017.
Muscle Nerve
Publication year:
Symptom status:
Physical state
Functional status:
Physical functioning
Social functioning
General health perceptions / HRQoL:
Health-related quality of life
Adults (18-65)
Congenital malformations, deformations and chromosomal abnormalities and related symptoms
Diseases of and symptoms related to the musculoskeletal system and connective tissue
PRO / non-PRO:
Patient Reported Outcome
Type of measurement instrument:
1 - Questionnaires
CFS - Chalder Fatigue Scale [alias: FQ - Fatigue Questionnaire][alias: FRS - Fatigue Rating Scale]
DM1 Activ-c - DM1 Activity and Participation Scale - c
DM1-activ - DM1 Activity and Participation Scale
DSS - Daytime Sleepiness Scale
ESS - Epworth Sleepiness Scale
FDSS - Fatigue and Daytime Sleepiness Scale
INQol - Individualised Neuromuscular Quality of Life    
LIFE-H - Assessment of Life Habits   
MDHI - Myotonic Dystrophy Health Index