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Updated: Aug 8, 2026

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
Published on: July 29, 2016
[Musculoskeletal pain as the most prominent feature in myotonic dystrophy type 2]
A George1, C Schneider-Gold, K Reiners
1Neurologische Klinik und Poliklinik, Universitätsklinikum Würzburg. a.george@ion.ucl.ac.uk
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.
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