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Abstract:

  Summary Introduction Congenital myotonic dystrophy is an autosomal dominant inherited generally transmitted multisystemic disease that is generally inherited through the mother . It is characterized by the birth the newborn baby with hypotonia , respiratory and nutritional problems , and facial and general weakness . Objective Descriptive study of our experience in congenital myotonic dystrophy . Patients and methods Twelve patients with congenital myotonic dystrophy , belonging to 9 families in which the mother was a carrier of the disease have been studied . The clinical , electromyographic and genetic characteristics of their families were analyzed . Results Motor retardation as well as the intellectual retardation , dysarthria and nasal voice was clear in all the patients . The affected children had more than 1 , 500 repetitions of the cytosine - thymine - guanine ( CTG ) trinucleotide on chromosome 19 determined by the Southern Blot technique . Myopathic type alterations were found in the electromyographs of all of the subjects . The muscular biopsy done in 8 patients showed atrophy and predominance of type 1 fibers with central nuclei and type 2 fiber hypertrophy . Conclusion Myotonic dystrophy should be suspected in cases of newborn babies with hypotonia , in mothers with a background of abortions or stillborn babies . After surviving the first years of life , their development is similar to the myotonic dystrophy of the adult . It is fundamental to perform a genetic study in those who are affected by or carriers of the disease .
Motor retardation
intellectual retardation
dysarthria