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Strong association between myotonic dystrophy type 2 and autoimmune diseases
A A Tieleman1, A A den Broeder, A-E van de Logt
1Neuromuscular Centre Nijmegen, Department of Neurology (935), Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB, Nijmegen, The Netherlands. a.tieleman@neuro.umcn.nl
Journal of Neurology, Neurosurgery, and Psychiatry
|October 30, 2009
Summary
Patients with myotonic dystrophy type 2 (DM2) show a significantly higher incidence of autoimmune diseases and autoantibodies compared to those with myotonic dystrophy type 1 (DM1). This finding suggests a potential link between DM2 and autoimmunity.
Area of Science:
- Neurology
- Immunology
- Genetics
Background:
- Myotonic dystrophy type 2 (DM2) is a genetic disorder causing muscle weakness, myotonia, cataracts, and heart issues.
- A potential association between DM2 and autoimmune conditions or autoantibodies has been clinically observed but not previously published.
Purpose of the Study:
- To determine the prevalence of autoimmune diseases and autoantibodies in DM2 patients.
- To compare these frequencies with adult-onset myotonic dystrophy type 1 (DM1) patients.
Main Methods:
- A study involving 28 genetically confirmed Dutch DM2 patients.
- Comparison with 51 age- and sex-matched adult-onset DM1 patients.
- Assessment of autoimmune disorders and serum autoantibodies (nuclear and non-nuclear).
Main Results:
- Autoimmune diseases were significantly more frequent in DM2 patients (21%) than in DM1 patients (2%).
- Autoantibodies were also significantly higher in DM2 patients (25%) compared to DM1 patients (2%).
- DM1 patient data were consistent with the general population and results were not affected by confounding factors.
Conclusions:
- The study reveals a higher frequency of autoimmune diseases and autoantibodies in DM2 patients.
- These findings offer new insights into the clinical spectrum of DM2.
- Potential mechanisms underlying the DM2-autoimmunity association are discussed.
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