[Musculoskeletal pain as the most prominent feature in myotonic dystrophy type 2]. / Muskuloskelettaler Schmerz als Hauptsymptom bei myotoner Dystrophie Typ 2.

ABSTRACT

BACKGROUND: 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. PATIENTS AND METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.