Diagnosis and therapy of myotonic dystrophy in our practice of neuromuscular care

INTRODUCTION: Myotonic dystrophy is the most frequent, autosomal dominantly inherited muscular dystrophy. The typical neurological picture (facial myopathy, myotonia, muscle atrophy) may be associated with cardial, endocrine and ocular symptoms. METHODS: The diagnosis is based on electromyography, muscle biopsy and genetical tests. Muscle histology is characterized by high frequency of central nuclei. Genetical tests detect CTG repeat expansion of the involved gene. AIMS: Authors summarize 9 cases found in the Neurology Clinic of Pecs University in the last three years. RESULTS: The prevalence is lower than expected, therefore some cases might be unrecognized. After recognizing the typical clinical picture, electrophysiological, muscle biopsy, brain MRI, psychologic and molecular genetic studies were performed. Six patients belonged to 3 families and 3 sporadic cases were found. In all except one patient mild neurocognitive deficit was detected. Three patients had cataract and cardiac involvement. CONCLUSIONS: The authors emphasize that in cases of cardial, endocrine and central nervous system involvement myotonic dystrophy must be considered and detailed examinations are necessary for early detection of the specific organ manifestations.