Congenital myotonic dystrophy: molecular diagnosis and clinical study.

Abstract

Recently, an unstable DNA fragment specific to myotonic dystrophy (MyD) was discovered. In affected individuals, a DNA fragment is found that is larger than in normal siblings. Our objectives were to show whether the results of DNA analysis agree with the disease severity and prognosis in congenital myotonic dystrophy (CMyD) by DNA analysis. We investigated three pregnancies (two studied retrospectively) in three families. We genotyped the family members with the Southern blots and the polymerase chain reaction (PCR) analysis. In one case a prenatal diagnosis was carried out using chorionic villus sampling. This report also presents the three cases of affected mothers and CMyD babies with their growth courses. We clarify four main problems in CMyD, namely, respiratory distress, delayed motor development, feeding difficulty, and delayed mental development. The allele size in the range of 10 to 13 kb tended to be present as the adult form of MyD, and 14 to 15 kb as the CMyD. The three CMyD cases whose alleles size in the range of 14 to 15 kb showed various forms of disease and prognosis. We reached the following conclusions: the disease severity and prognosis in babies with CMyD did not correlate with the result of DNA analysis. The DNA analysis is a useful test for prenatal diagnosis. However, it is impossible to predict the disease severity and prognosis in babies with CMyD.