[Musculoskeletal pain as the most prominent feature in myotonic dystrophy type 2].

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.