Myotonic dystrophy: genetics and clinical polymorphism

Abstract

Myotonic dystrophy is the most common form of hereditary progressive muscular dystrophy in adults. The disorder is characterized by progressive course, autosomal dominant inheritance and multisystem involvement (skeletal muscles, myocardium, endocrine system, eyes, etc.). The paper highlights a huge heterogeneity of clinical manifestations of myotonic type 1 and type 2, and reviews genetic aspects and current approaches to the diagnosis of myotonic dystrophy. We present our own clinical observation of myotonic dystrophy in a family, which demonstrates a rare combination of a classical form of myotonic dystrophy type 1, syringomyelia and proximal muscle weakness, and provides an classical example of the phenomenon of anticipation.

Keywords

• myotonic dystrophy
• myopathy
• multisystem involvement
• microsatellite expansion anticipation
• syringomyelia