Managing 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. 

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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. 

 

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. 

Multiple diagnostic options exists for patients who are considering having children. These include:

  • Preimplantation genetic diagnosis (also known as PGD). This is the diagnosis of a genetic condition before pregnancy. This form of testing is done on a woman's eggs using in vitro fertilization. Unfertilized eggs are taken from the woman by a doctor and are fertilized outside the womb in a laboratory. The embryos are tested for DM at the 6 to 8 cell stage. Only non DM-affected fertilized eggs are implanted into the uterus. 
  • Prenatal diagnosis. Parents wishing to find out during pregnancy whether their fetus has inherited the myotonic dystrophy gene can undergo prenatal testing. Two types of tests are available:
  • Amniocentesis. This procedure involves removing a smaple of fluid from the womb that contains skin cells shed by the fetus. The cells are then grown in the lab to provide DNA for testing. The test is typically done 15 weeks into the pregnancy and can take 2-3 weeks for results to become available. 
  • Chorionic villus sampling (CVS). The doctor removes a piece of tissue from the edge of the placenta using a needle inserted through the abdomen or vagina. The sampled tissue contains the same genetic information as the fetus; the DNA is isolated and tested for the presence of the myotonic dystrophy mutation. The test can be done in the first trimester (generally around 10 weeks into the pregnancy) and results are typically available within 1-2 weeks. 

Mothers who have DM1 should be closely monitored during pregnancy because they have a higher risk of having a child with congenital DM1. In these cases, excessive amniotic fluid (hydramnios) can accumulate, which can usually be seen during ultrasound examination. Decreased fetal movement is frequently noted. Also, breech presentation and weak uterine contractions can cause long or difficult deliveries, often resulting in Caesarean births. 

Newborns with congenital myotonic dystrophy require immediate intensive medical support. Delivery at a medical center with high-risk neonatal support may be recommended. Regardless of whether or not testing is done, individuals with family history or symptoms of myotonic dystrophy should inform their obstetrician so the medical team can prepare for the possible complications seen with these children. 

Working with your Doctor

Because of the range of systems affected, people with DM may see multiple specialists who are unaware of the full spectrum of issues experienced by a person with the disorder. Informed patients often know more about the various aspects of DM than any single specialist they see. This variability in symptoms presents unique challenges in both the diagnosis and management of the disease. Therefore, it is important for individuals with DM and their families to learn as much as they can about the disease and its symptoms. 

Multi-disciplinary teams are often needed to provide a comprehensive, coordinated clinical care. By taking an active role in diagnosis and management of their condition, people with DM can aid this process and help make sure that potential complications are detected and managed at the earliest stages. 

Medical Specialist

Complaint

Primary Care Physician

Exhaustion, inability to sleep well, excessive daytime sleepiness, feeling faint

Pediatrician

Hypotonia (also known as floppy baby syndrome) or child with learning and behavioral problems

Ophthalmologist

Blurry or dimmed vision (possible cataracts), eye muscle weakness, droopy eyelids (ptosis)

Cardiologist

Abnormal heartbeat, heart damage (cardiomyopathy), fainting spells

Pulmonary Specialist

Chronic respiratory problems, sleep apnea, frequent chest colds that do not go away, aspiration pneumonia caused by swallowing issues

Endocrinologist

Insulin resistance, benign thyroid mass

Dermatologist

Benign tumors associated with hair follicles (pilomatrixoma)

Gastroenterologist

Chronic diarrhea, constipation, unexplained stomach pain, gallstones, swallowing problems

Urologist & Reproductive Endocrinologist

Ectopic pregnancies, low testosterone, infertility, miscarriage, stillbirths

Psychiatrist

Depression, personality abnormalities such as excessive apathy, socialization issues, and attention deficit

Neurologist

Nerve and muscle complaints including weakness, stiffness, and chronic muscle pain, cognitive development delays, reduced executive function

Anesthesiologist

Respiratory failure before and after general anesthesia

Orthopedic Surgeon

Foot deformities, curvature of the spine

Podiatrist

Gait issues and muscle weakness

Plastic Surgeon/
Oral Surgeon

Jaw and mouth bone deformities that disturb chewing and speech

Audiologist

Hearing loss

Speech Pathologist

Delayed or impaired speech, swallowing difficulties

Physical Therapist

Gait irregularities and muscle weakness