Why Both Men and Women Need to Know About Duchenne Muscular Dystrophy

Medically Reviewed By Heidi Moawad, M.D.

Men are most likely to develop Duchenne muscular dystrophy. However, women can be carriers of the condition. Understanding your family risk can help with making medical decisions.

gettyimages-1376105929-1024x683.jpg

Duchenne muscular dystrophy (DMD) is a rare condition that causes muscles to become progressively weaker over time. The genetic disease is more common in males. However, females play a primary role in how DMD is passed down through families. Occasionally, females may develop symptoms as well. For this reason, both sexes need to understand this condition, particularly if there is a family history.

A lesson in Duchenne muscular dystrophy

DMD develops when a gene mutation affects how the body produces a protein called dystrophin. Dystrophin helps protect muscle fibers as they stretch and contract with movement. When the body doesn’t produce enough dystrophin, regular movement and activity can lead to muscle damage.

Symptoms of DMD usually begin in early childhood, around 3 to 6 years old. Muscle weakness in the lower body often appears first. As DMD progresses, muscle degeneration also affects other areas of the body, such as the trunk and arms. People with DMD often lose their ability to walk by the time they are teenagers or young adults.

Eventually, DMD may cause heart and breathing problems, as those muscles become affected as well.

How Duchenne muscular dystrophy impacts males

It’s estimated that about 1 in every 3,500 males is born with the genetic mutation that causes DMD. This mutation is found on the X chromosome, one of the two sex chromosomes.

Males have one X and one Y chromosome. They inherit their X chromosome from their mother and their Y chromosome from their father. If a male inherits the DMD gene mutation on his X chromosome, his body will not produce adequate dystrophin, and he will develop the condition.

How Duchenne muscular dystrophy impacts females  

Females have two X chromosomes, one from each parent. Even if a female inherits the DMD mutation on one of her X chromosomes, she likely has a healthy second X chromosome. Her additional X chromosome enables her body to still produce dystrophin. She is then considered a carrier of DMD, meaning she has the gene mutation but doesn’t have symptoms. She can, however, pass the gene mutation to future children.

A small percentage of females are known as “manifesting carriers.” This means they may exhibit some symptoms of DMD. Manifesting carriers can develop changes in the way their heart functions and occasionally may experience mild muscle weakness. Females typically have significantly milder symptoms than males.

Having a family history of Duchenne muscular dystrophy

Since DMD is typically an inherited condition that can have life altering changes, knowledge of the disease can provide many benefits. These include:

  • Prompt recognition of DMD: Symptoms of DMD can be subtle initially. Awareness can help parents spot early signs of the condition in their children and take steps toward getting a diagnosis.
  • Early treatment of DMD: Though there isn’t a cure, treatment can help slow the progression of DMD. Steroids are part of the standard of care for DMD, and innovative treatments using gene therapy have recently emerged as well.   
  • Identifying DMD carriers: Females who have family members with DMD can undergo genetic testing to determine whether they are carriers so they can make informed decisions about having a child. Females who are known carriers can also undergo regular screenings to monitor for potential heart or muscle problems.  
  • Guidance regarding family planning: Genetic counselors or doctors with experience treating DMD can discuss the chances of having a male with DMD or a female who is a carrier. They can also explain the various reproductive options, including prenatal testing, in vitro fertilization with genetically tested embryos, and egg or sperm donation.

Takeaway

If you have DMD or a family history of the condition, consider talking with a genetic counselor. Though DMD is mostly seen in males, its impact on females and families is evident. Learning more about the condition and connecting with others in the DMD community can be the next step.

Was this helpful?
0
Medical Reviewer: Heidi Moawad, M.D.
Last Review Date: 2024 Apr 22
View All Bones, Joints and Muscles Articles
THIS TOOL DOES NOT PROVIDE MEDICAL ADVICE. It is intended for informational purposes only. It is not a substitute for professional medical advice, diagnosis or treatment. Never ignore professional medical advice in seeking treatment because of something you have read on the site. If you think you may have a medical emergency, immediately call your doctor or dial 911.