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Myotonic Dystrophy and Cancer Susceptibility

Myotonic Dystrophy (dystrophia myotonica - DM) is a slowly progressive multi-system genetic disorder that primarily affects skeletal muscles. It is the most common form of adult muscle dystrophy, but the disease can present at any age and as early as birth. Two types of the disease have been described (type 1 and 2); they are clinically similar, with few exceptions, but genetically distinct. Prior to DCEG’s research in this area, cancer was not typically thought of as part of the disease phenotype.

When neurologists at the University of Rochester responsible for the management of DM reported the clinical impression that their patients were developing more cancer than expected, DCEG investigators in the Clinical Genetics Branch (CGB) became involved in trying to answer the question “Is myotonic dystrophy a cancer susceptibility disorder?” In collaboration with investigators at the Karolinska Institutet, Sweden and the University of Rochester, and the Statens Serum Institut, Denmark, CGB investigators performed the first epidemiological study using data obtained from population-based hospital and cancer registries. They identified an excess by cancers of the colon, endometrium, ovary, brain, and possibly thyroid—among DM patients.

Since then, CGB investigators are leading research efforts to identify the genetic, clinical, and lifestyle predictors that may alter cancer risk for myotonic dystrophy patients, and to understand the biological mechanisms by which DM increases cancer risk.

Myotonic Dystrophy - Research Publications

For more information, contact Shahinaz Gadalla.

Clinical Genetics Branch - Research Areas