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Myotonic dystrophy type 2 found in two of sixty-three persons diagnosed as having Fibromyalgia – Source: Arthritis and Rheumatism, Oct 30

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By Satu Auvinen, et al. • • November 5, 2008

Because of its high prevalence, fibromyalgia (FM) is a major general health issue. Myotonic dystrophy type 2 (DM2) is a recently described autosomal-dominant multisystem disorder. [A chronic, slowly progressing, highly variable inherited multisystemic muscular disorder that can manifest at any age. Rare in general population, diagnosed by chromosome test.]

Besides variable proximal muscle weakness, myotonia [slow relaxation of muscles after contraction], and precocious cataracts, muscle pain and stiffness are prominent presenting features of DM2.

After noting that several of our mutation-positive DM2 patients had a previous diagnosis of FM, suggesting that DM2 may be misdiagnosed as FM, we invited 90 randomly selected patients diagnosed as having FM to undergo genetic testing for DM2.

Of the 63 patients who agreed to participate, 2 (3.2%) tested positive for the DM2 mutation. Their cases are described herein.

DM2 was not found in any of 200 asymptomatic controls.

We therefore suggest that the presence of DM2 should be investigated in a large sample of subjects diagnosed as having FM, and clinicians should be aware of overlap in the clinical presentation of these 2 distinct disorders.

Source: Arthritis and Rheumatism, Oct 30, 2008;58(11):3627-3631. PMID: 18975316, by Auvinen S, Suominen T, Hannonen P, Bachinski LL, Krahe R, Udd B. Department of Neurology, Jyvaskyla Central Hospital, Jyvaskyla, Finland; University of Texas M. D. Anderson Cancer Center, Houston. [E-mail: Satu Auvinen]

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