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.
Congenital myotonic dystrophy. clinical, electrophysiological and genetic findings of our casuistry
 
  Key words
 
 
  
   congenital myotonic dystrophy
  
 
 
  
   myotonic dystrophy type 1
  
 
 
  
   myotonic dystrophy of Steinert
  
 
 
  
   genetic anticipation
  
 
 
  
   myopathy
  
 
 
  
   electromyography
  
 
   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
<dis>Motor retardation</dis> as well as the <dis>intellectual retardation</dis>, <dis>dysarthria</dis> 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.
   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.
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
<dis>Motor retardation</dis> as well as the <dis>intellectual retardation</dis>, <dis>dysarthria</dis> and nasal voice was clear in all the patients.
Motor retardation
DISABILITY
intellectual retardation
DISABILITY
dysarthria
DISABILITY