Researchers at the University of Illinois recently re-engineered small molecules to disrupt toxic RNA repeats involved in DM2.
Living with DM
What to expect
Myotonic dystrophy is a progressive or degenerative disease. Symptoms tend to worsen gradually over several decades. While no treatment exists that slows the progression of myotonic dystrophy, management of its symptoms can greatly improve patient quality of life. Early intervention can reduce or avert complications that sometimes arise.
DM2 tends to be less severe than DM1 and has less impact on life expectancy. DM1 is much more variable and the prognosis for an affected individual is difficult to predict. Some people may experience only mild stiffness or cataracts in later life. In the most severe cases, respiratory and cardiac complications can be life threatening even at an early age. In general, the younger an individual is when symptoms first appear, the more severe symptoms are likely to be.
However, prognosis is as variable as the symptoms of the disease. How myotonic dystrophy affects an individual can can be completely different from how it manifests in another, even for members of the same family. It is impossible to predict how the disease will affect any one individual.
DM as a family disease
Because of the inherited nature of DM, a diagnosis in one individual has implications for other family members. Questions arise about whether or not the affected person should tell family members who show no symptoms. If the person does share the positive diagnosis of myotonic dystrophy, the family must then decided whether or not to be tested. Because the mutation can be present with few or no symptoms, family members who are affected may not be aware that they have myotonic dystrophy.
Concerns about asymptomatic testing
There are three explanations as to why some individuals with myotonic dystrophy might not show symptoms of the disease:
- Symptoms may be so mild these individuals do not realize they have the disorder.
- They may have a late onset form of the disease and do not yet exhibit symptoms.
- They may carry a pre-mutation (a form of the mutation that is less extensive than that seen in patients who display symptoms). These individuals are not likely to develop disease symptoms, but their children are at risk of inheriting the mutation and having the disorder.
Testing when symptoms are not present is not as straightforward. Some problems that may arise from a diagnosis of DM include:
- Difficulties in obtaining insurance, such as health, disability and life
- Prejudice in the workplace or elsewhere
- Impact of being diagnosed with a disorder when no cure or treatment capable of slowing the progression of myotonic dystrophy currently exists.
Family planning with DM
Individuals with myotonic dystrophy may have concerns about starting a family because of the risks of passing the disease to their children. Discussing family planning issues with a genetic counselor can help individuals make an informed decision.