Abstract
Myotonic dystrophy type 2/proximal myotonic myopathy (DM 2/PROMM) is an autosomal dominant multisystem disorder characterized by proximal muscle weakness, myotonia and musculoskeletal pain. We describe five patients with DM 2/PROMM in whom musculoskeletal pain was the most prominent feature. We used the McGill Pain Questionnaire for standardized pain assessment. The patients reported multiple types of musculoskeletal pain including tenderness, cold-enhanced and exercise-related musculoskeletal pain. Exercise-induced or -enhanced musculoskeletal pain was indicated as the most disabling feature. Myotonic dystrophy type 2 should be considered as one of the differential diagnoses in patients with musculoskeletal pain. Family history and laboratory tests provide critical diagnostic clues.
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