OBJECTIVES: Myotonic dystrophy type 1 (DM1) is a rare, genetic, progressive muscle disease associated with high morbidity and premature mortality for which there are no available disease-modifying therapies. Current treatment focuses on managing symptoms and minimizing disability, resulting in substantial disease burden. The objective of this literature review was to understand the burden that DM1 has on the overall quality of life (QoL) of affected individuals.

METHODS: A targeted literature review of electronic databases (Embase, MEDLINE, the Cochrane Library, EconLit, and PsycINFO) and key conference proceedings (last two meetings) was conducted. Searches were limited to studies published in English from 2010 onward for electronic databases. Studies were included if they assessed people with DM1 in the US, UK/other European countries, and Japan, and provided data regarding QoL (including mental health) for affected individuals and caregivers. Following screening, studies meeting the eligibility criteria underwent a final review; articles that met criteria but had too narrow of a focus were excluded.

RESULTS: Nineteen records met the inclusion criteria, and a patient voice report not published in an indexed journal was included via the hand searches. General physical health was shown by multiple studies to have an impact on the mental health of people with DM1. The 36-item Short Form Health Survey (SF-36) was the most used QoL questionnaire (n=6 studies). Among studies using SF-36, one showed that QoL was impaired in both physical and mental domains, while two reported a greater impact on the physical than mental component scores. Specific clinical measures showing muscle impairment, cognitive functions, psychological factors, and unemployment were associated with lower QoL scores.

CONCLUSIONS: DM1 has a considerable impact on the QoL and mental health of affected individuals. More meaningful assessments of QoL will be achieved through the use and reporting of outcomes of disease-specific tools.