The use of genetic linkage in counselling families with dystrophia myotonica

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Abstract
The linkage between the ABH secretor locus (Se) and the locus for the dystrophia myotonica gene (Dm) was studied in 8 families in the hope that this linkage would be of use for detecting carriers of the Dm gene prior to the onset of clinical signs. It proved to be of help in 4 of 8 families, though for only a proportion of the individuals at risk. In 1 family prenatal diagnosis would have been possible for the mother of the proband, but she elected to be sterilized. In a 9th family in which the diagnosis is not yet established, prenatal diagnosis would be feasible should the proband prove to have myotonic dystrophy. Cases of infantile DM occurred in 4 of the 8 families. In all instances, the gene was inherited from the mother. The incidence of miscarriage and neonatal death was 6 times as high in the families of DM sufferers as in the families of their normal siblings.