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.
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.
Authors: C L Liquori; K Ricker; M L Moseley; J F Jacobsen; W Kress; S L Naylor; J W Day; L P Ranum Journal: Science Date: 2001-08-03 Impact factor: 47.728
Authors: M F Phillips; M T Rogers; R Barnetson; C Braun; H G Harley; J Myring; D Stevens; C M Wiles; P S Harper Journal: Neuromuscul Disord Date: 1998-10 Impact factor: 4.296