Planning a Family? Know about Duchenne Muscular Dystrophy

Medically Reviewed By Heidi Moawad, M.D.

If you have a family history of Duchenne muscular dystrophy (DMD), you may be concerned about passing it on to your child. Genetic counseling and testing can provide information on potential gene inheritance and next steps.

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Duchenne muscular dystrophy (DMD) is a rare health condition that causes progressive weakness of the body’s muscles. It develops due to a mutation or change in the DMD gene. About 2/3 of the time, it is passed from mother to son. The remaining 1/3 occurs as a spontaneous gene mutation.

The DMD gene makes a protein called dystrophin. Dystrophin provides protection and stability for the muscles as they expand and contract. However, mutation of the DMD gene can affect the body’s ability to make enough dystrophin, and everyday activities cause the muscles to wear down.

Symptoms of DMD usually appear in the first few years of life. As muscles begin to deteriorate from a lack of dystrophin, mobility issues and difficulty walking develop. Over time, people may need to use a wheelchair. Also, the heart muscles, the muscles that control breathing, swallowing, and digestion are affected.

How is Duchenne muscular dystrophy inherited?

DMD primarily affects males Trusted Source National Human Genome Research Institute Governmental authority Go to source . Females may be carriers, which means they can have the DMD gene mutation but don’t have symptoms. In some cases, females may have a mild form of the condition.

The DMD gene Trusted Source PubMed Central Highly respected database from the National Institutes of Health Go to source is found on the X chromosome. Males have one X and one Y chromosome. They inherit their X chromosome from their mother and the Y chromosome from their father. Females have two X chromosomes, receiving one from each parent.

When a mother has a mutated DMD gene on her X chromosome, she has a 50% chance of passing the mutation to a son. Because males have only one X chromosome, her son will have symptomatic Duchenne muscular dystrophy.

When a mother with a mutated DMD gene has a daughter, she also has a 50% chance of passing the disease to her child. However, her daughter will be a carrier because she has a second X chromosome and still produces dystrophin.

A father with DMD passes the Y chromosome to his son, so he cannot pass the condition to him. However, the father has a 100% chance of passing his X chromosome to his daughter, making her a carrier.

A genetic counselor can answer questions about potential inheritance and explain the next steps if you proceed with genetic testing.

How is genetic testing for DMD used for family planning?

Genetic testing on a blood or saliva sample can help a female with a family history of DMD determine whether she is a carrier. If a mutation in the DMD gene is discovered, the female is considered a carrier. Being a carrier means a person has a 50% chance of passing that mutation to their children.

If genetic testing does not reveal a mutation in the DMD gene, the female is probably not a carrier. In some situations, additional testing may be suggested to confirm the result.

What are the next steps if a female is determined to be a carrier of DMD?

A genetic counselor or an OB/GYN can provide more detailed information on the following options:

  • Get pregnant naturally, understanding the possibility of having a son with DMD or a daughter who is a carrier.
  • Get pregnant naturally and undergo prenatal testing to check the fetus’s cells for the DMD gene mutation.
  • Use in vitro fertilization (IVF) to implant embryos that have been genetically tested and found to be unaffected by DMD.
  • Get pregnant using a donor egg.

Are there resources to learn more about DMD and family planning?

The Parent Project Muscular Dystrophy (PPMD) is a nonprofit that provides information and support for families with DMD. It offers access to free carrier testing and connections to genetic counselors.

The Muscular Dystrophy Association also provides a resource center to help navigate the journey through DMD.

Though treatments for DMD have recently emerged, understanding the condition is crucial for making informed decisions about family planning.

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Medical Reviewer: Heidi Moawad, M.D.
Last Review Date: 2024 Apr 22
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