Frequently Asked Questions.

• What is myotonic dystrophy?

  Myotonic dystrophy (DM) is a form of muscular dystrophy that affects muscles and many other organs in the body. DM is a rare muscle disease that affects only 1 in every 8,000 individuals and is divided into two main types based on the genetic alteration that causes the disease.

  What is a rare disease? A rare disease is one that affects a small absolute number of people or a small proportion of the population. In Europe, a disease is considered “rare” if it affects fewer than 1 in 2,000 people. In the United States, it is defined as a disorder or disease affecting fewer than 200,000 people.

• What are the symptoms of Steinert's disease?

  Clinically, myotonic dystrophy type 1 (DM1) is characterized by progressive muscle atrophy and weakness, cardiomyopathy, insulin resistance, and cataracts, among other features. Myotonic dystrophy DM1, or Steinert’s disease, affects both women and men equally.

• Is Steinert's myotonic dystrophy hereditary?

  Myotonic dystrophy is a hereditary disease. It is passed from parents to children through an autosomal dominant pattern, which means that if one parent has the disease, there is a 50% chance that their children will inherit it, as outlined in ‘Epidemiological study of congenital Steinert’s myotonic dystrophy: Dysmorphic characteristics‘.

  In the specific case of Steinert’s myotonic dystrophy, it is inherited in an autosomal dominant manner through the mother. This means that if the mother has the disease, there is a high probability that her children will also have it.

• Does Steinert's disease affect life expectancy?

  The symptoms of myotonic dystrophy type 1 progress gradually, which can significantly reduce the life expectancy of patients. Some complications associated with the disease include sleep problems such as daytime hypersomnia or excessive daytime sleepiness, cardiovascular difficulties such as cardiomyopathy or arrhythmias, and other symptoms like drooping eyelids, cataracts, early-onset baldness in men, or diabetes.

  For all these reasons, the life expectancy of patients with Steinert’s disease may be significantly reduced due to the aforementioned complications. In many cases, it generally does not exceed 55 years due to the progression of muscle weakness and heart problems.

  However, the extent of the impact on life expectancy largely depends on when the symptoms appear. Constant monitoring and symptom management can improve quality of life and potentially extend life expectancy within the limits allowed by the disease.