No effective treatment for myotonic dystrophy exists, as of 2015, the National Human Genome Research Institute states. However, there are options to manage the symptoms. These include medications, leg braces and ankle supports. Specific symptoms that affect other organs, such as heart or eye problems, can be treated on their own.
Myotonic dystrophy symptoms mainly consist of weakness and wasting of the muscles and poor muscle control due to muscle stiffness, NHGRI explains. Symptoms mainly appear in the patient’s 20s or 30s. Muscles of the face, neck, lower legs and hands begin to waste and grow weaker. This often results in distinctive, recognizable facial symptoms. The muscle rigidity and tightness caused by the condition lead to reduced ability to relax a muscle after tensing it. Nonmuscle-related symptoms include eye cataracts; problems with the electrical system of the heart; and, in men, infertility and balding.
Diagnosis of myotonic dystrophy is performed conclusively with a genetic test, according to NHGRI. Mutations to two specific genes cause muscle dystrophy, and a genetic test examines the chromosomes of white blood cells for these mutations. Other tests for diagnosing myotonic dystrophy include electromyography, which consists of observing the electrical patterns of a muscle with an inserted needle, and a physical exam.