Myotonic dystrophy (DM) is the most common form of myotonic myopathy, with an estimated prevalence of 1 in 7,000 people, though milder cases often go undiagnosed.

Overview

This multisystem disorder is inherited as an autosomal dominant trait and can affect various systems, including:

  • Skeletal and smooth muscle
  • Eyes
  • Heart
  • Endocrine system
  • Central nervous system

The clinical spectrum ranges from mild to very severe, categorized into three overlapping phenotypes:

  1. Mild
  2. Classic
  3. Congenital
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