Health-related quality of life in myotonic dystrophy type 1 and its relationship with cognitive and emotional functioning

Objective: To evaluate the health-related quality of life in myotonic dystrophy type 1 and its relationships with clinical, genetic, neuropsychological and emotional factors. Design: Case-control study of a continuous series of patients with myotonic dystrophy type 1. Patients and methods: Twenty patients, and 20 age-,sex- and education-matched healthy controls underwent the MOS 36-Item Short-Form Health Survey (SF-36), an extensive neuropsychological battery and emotional functioning tests. Results: Patients' SF-36 mean scores were lower than those of controls in all dimensions. The neuropsychological study showed a significant impairment in visuospatial and verbal abstract reasoning (p = 0.001), visuospatial memory (p = 0.002) and attentive functions (p = 0.03) in patients with myotonic dystrophy type 1. The emotional assessment showed significantly high scores in anxiety (p = 0.002) and depression (p = 0.001), which occurred in approximately 50% of patients. Both physical and mental SF-36 areas were inversely correlated with age, duration and grade of disease, depression and anxiety and positively correlated with attentive control. SF-36 areas were not correlated with cytosine thymine guanidine expansion. Conclusion: Health-related quality of life is severely impaired in myotonic dystrophy type 1 and it is negatively influenced by severity and duration of disease as well as by specific cognitive deficits and changes in emotional functioning. Therapeutic intervention in this field could contribute to ameliorate healthrelated quality of life in myotonic dystrophy type 1.