Care Considerations

Duchenne is unique for each person and as a rare disease, it’s often misunderstood. Learn about clinical considerations for optimal care, how to build a care team with experience treating Duchenne Muscular Dystrophy, the variety of treatment options available to those living with Duchenne and what to do in a medical emergency.

Family Planning

Knowing this information greatly helps in family planning. The reproduction options are vast and speaking with a geneticist and an OB/GYN is helpful for deciding what options to consider. If the woman is pregnant there are two procedures that can be done called chorionic villus sampling (CVS) between 10 and 12 weeks or an amniocentesis. CVS tests the placenta cells to determine the sex and if a mutation is present. Amniocentesis can be done as early as 15 weeks and fully into the pregnancy. A small sample of amniotic fluid is tested to determine the sex and if a mutation is present. There is a risk of miscarriage with these tests due to them being invasive procedures. Another option is preimplantation genetic diagnosis (PGD). This process uses in-vitro fertilization along with genetic testing to determine what embryos are not affected by Duchene. Those embryos are then implanted into the mother’s uterus.

Manifesting Carriers

At least 10 percent of the women carrying the DMD gene develop symptoms of Duchenne.

Those individuals are known as manifesting carriers. The symptoms typically include varying degrees of reduced muscle strength, reduced endurance, pain and fatigue. The pain and fatigue can be severe enough to affect everyday life, functional ability, and working capacity. It’s crucial for carriers to be assessed by a cardiologist to determine if there are any signs or symptoms of cardiac issues. It is also important for carriers to be aware of and report muscle pain or changes in strength or endurance to their health care provider.