Musculoskeletal pain in patients with myotonic dystrophy type 2

Arch Neurol. 2004 Dec;61(12):1938-42. doi: 10.1001/archneur.61.12.1938.


Background: Myotonic dystrophy type 2/proximal myotonic myopathy (DM2/PROMM) is an autosomal dominant multisystem disorder. Musculoskeletal pain is one of its frequent symptoms but also occurs in other chronic noninflammatory muscle disorders (OMD).

Objectives: To characterize the phenotype of DM2/PROMM-associated musculoskeletal pain and to test whether it shows features distinct from OMD.

Setting: Outpatient clinic for patients with neuromuscular disorders, university hospital.

Patients: Twenty-four patients with DM2/PROMM (12 women and 12 men; median age, 57 years) and 24 age- and sex-matched patients with OMD consecutively recruited during a 3-year period were examined for musculoskeletal pain.

Methods: Standardized pain assessment; McGill Pain Questionnaire; depression score; and quantification of pain thresholds to blunt pressure on limb muscles with analgometer.

Results: Unlike patients with OMD who have musculoskeletal pain, patients with DM2/PROMM distinguished a wide spectrum of coexisting pain types. The major pain type in patients with DM2/PROMM was exercise-related, temperature-modulated, and palpation-induced, whereas, cramps were rare. In 8 of the patients with DM2/PROMM and in 3 of the patients with OMD, musculoskeletal pain was the most disabling symptom.

Conclusion: Besides many similarities, DM2/PROMM-associated musculoskeletal pain shows features distinct from OMD.

Publication types

  • Comparative Study

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Female
  • Humans
  • Male
  • Middle Aged
  • Muscle, Skeletal / physiopathology*
  • Myotonic Dystrophy / classification*
  • Myotonic Dystrophy / genetics
  • Myotonic Dystrophy / physiopathology*
  • Pain / classification
  • Pain / genetics
  • Pain / physiopathology*
  • Pain Measurement / methods*