Clinical characteristics of different forms of myotonic dystrophy type 1

Abstract

Myotonic dystrophy type 1 (DM1) is one of the most common neuromuscular diseases with an autosomal dominant type of inheritance associated with expansion in the DMPK gene. A distinctive feature of the disease is the presence of muscle symptoms and multisystemic. Depending on the age of onset and the number of CTG repeats, there are congenital, infantile, juvenile, classic (adult) form and a form with a late onset. Each form is characterized by its own features of the onset, course of the disease, heterogeneity of clinical manifestations, which makes it difficult to make a timely diagnosis. Increasing the awareness of physicians of all specialties about the nature of the course of various forms will make it possible to diagnose MD1 at an earlier stage, improve the prognosis and quality of life of patients. The article provides a literature review that demonstrates the spectrum of clinical manifestations in various forms of MD1.

Keywords

• myotonic dystrophy type 1
• congenital myotonic dystrophy type 1
• infantile myotonic dystrophy type 1
• juvenile myotonic dystrophy type 1
• classic myotonic dystrophy type 1
• ctg-repeat
• multi-system manifestations