E-Pearl of the Week: Malignancies in Myotonic Dystrophy

July 24, 2012


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July 24, 2012

Malignancies in Myotonic Dystrophy

Myotonic dystrophy, a heterogenous disorder, is one of the most common forms of adult muscular dystrophy.  Prominent clinical features include facial and limb weakness, myotonia, cataracts, cardiac conduction abnormalities, and insulin resistance.  Evidence suggests that myotonic dystrophy is associated with an increased risk of cancer. In one study of 104 patients, the development of cancer in patients with myotonic dystrophy was two–fold higher than expected. Patients were at increased risk of cancers overall and specifically of cancers of the endometrium, brain, ovary, and colon.  Read more about myotonic dystrophy and the impact of symptoms in this week's issue of Neurology.


1. Gadalla SM, Lund M, Pfeiffer RM, et al. Cancer risk among patients with myotonic muscular dystrophy. JAMA 2011; 306: 2480–2486.
2. Heatwole C, Bode R, Johnson N, et al. Patient reported impact of symptoms in myotonic dystrophy type–1 (PRISM–1). Neurology 2012; 79: 348–357.

Submitted by: Jennifer E. Fugate, DO

Disclosures: Dr. Fugate serves on the editorial team for the Neurology Resident and Fellow Section.

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