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Myotonic dystrophy associated with Down syndrome (trisomy 21)

Department of Medicine, Divisions of Neurology and Medical Genetics, University of Washington School of Medicine, and the Veterans Administration Medical Center, Seattle, WA.

A 27-year-old man had both autosomal dominant myotonic muscular dystrophy and classic trisomy 21 Down syndrome. Down syndrome had been recognized many years before the myotonic dystrophy. Although he had the typical physical stigmata of Down syndrome, he functioned socially with an I.Q. of 50. There was no evidence that either of the two diseases adversely affected the manifestations of the other. Although the occurrence of these two disorders in the same patient could be coincidental, this is at least the fifth report of myotonic dystrophy associated with chromosomal aneuploidy; the previous four patients all had Klinefelter syndrome (47, XXY).

Address correspondence and reprint requests to Dr. Bird, Neurology, VA Medical Center, 4435 Beacon Avenue South, Seattle, WA 98108.

Supported in part by the Muscular Dystrophy Association, Gallagher Fund, NIH grant No. GM15253-13, and Veterans Administration Medical Research Funds.

Accepted for publication July 2, 1980.

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