Myotonic dystrophy is a rare genetic disorder that can cause problems with many systems in the body. This inherited disorder can appear at any age and can manifest itself differently in each individual. Muscle issues are often, although not always, one of the first complaints of patients, characterized by the following:
- muscle weakness, most commonly seen in the arms, face, neck and often legs
- progressive muscle wasting (atrophy)
- stiffness and difficulty relaxing a muscle (myotonia)
However, classifying myotonic dystrophy simply as a muscle disorder is misleading because of the range of systems that can be affected. The range of systems affected and the severity of symptoms seen can vary greatly between patients, even in the same family. In addition to muscle problems, myotonic dystrophy patients often face issues with respiratory function, heart abnormalities, cataracts, cognitive impairment and personality abnormalities. However, an affected person does not typically exhibit all, or even most, of the possible symptoms. Often, the disease is mild and only minor muscle weakness or cataracts are seen late in life. At the opposite end of the spectrum, life-threatening neuromuscular, cardiac and pulmonary complications can occur in the most severe cases when children like Sam are born with the congenital form of the disease.
There is currently no cure for myotonic dystrophy.
Click on the links below for additional information about all types of myotonic dystrophy.