Symptom Burden in Persons with Myotonic and Facioscapulohumeral Muscular Dystrophy

Objective This study examines the prevalence of pain, fatigue, imbalance, memory impairment, and vision loss in persons with myotonic and facioscapulohumeral dystrophy and their association with functioning. Design A survey (N = 170) included measures of severity (0-10 scales) and course of these symptoms as well as measures of social integration, home competency, mental health, and productive activity. Descriptive and regression analyses examined the associations between symptoms and functioning. Results Fatigue (91%), imbalance (82%), and pain (77%) were the most commonly reported. The most severe symptom was fatigue (mean SD severity, 5.14 +/- 2.81), followed by imbalance (4.95 +/- 3.25). Symptoms were most likely to stay the same or worsen since onset. Controlling for potential medical and demographic confounds, symptoms were associated with 17% of the mental health variance, 10% of home competency, 10% of social integration, 16% of productive activity for myotonic dystrophy type 1, and 12% of productive activity for facioscapulohumeral muscular dystrophy. Conclusions Pain, fatigue, and imbalance are common in persons with muscular dystrophy. Interventions may be useful to mitigate their impact on functioning. Further research should examine these relationships to guide clinical practices.