An oncologist referred an endometrial cancer patient to a genetic counselor because she was diagnosed at a young age – before age 50. The patient had already undergone surgical treatment before the oncologist referred her to a genetic counselor.
After taking a thorough medical history of this patient and her relatives, the genetic counselor discovered the patient had a strong family history of myotonic dystrophy, an inherited disorder caused by mutations in the DMPK or CNBP gene and characterized by muscle weakness or wasting. Type 1 myotonic dystrophy affects muscles in the lower legs, hands, neck, and face, while type 2 disease impacts the muscles in the center of the body, like in the neck, shoulders, elbows, and hips.
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