Table of ContentsView AllTable of ContentsSymptomsCausesDiagnosisTreatmentPrognosisCopingFrequently Asked Questions

Table of ContentsView All

View All

Table of Contents

Symptoms

Causes

Diagnosis

Treatment

Prognosis

Coping

Frequently Asked Questions

How Common Is DMD?Duchenne muscular dystrophy is a rare disease, affecting roughly 1 out of every 3,600 to 6,000 men. Few women—about 1 in 50,000—develop active forms of the disease.

How Common Is DMD?

Duchenne muscular dystrophy is a rare disease, affecting roughly 1 out of every 3,600 to 6,000 men. Few women—about 1 in 50,000—develop active forms of the disease.

There is no cure for DMD. Many people with the condition do not live beyond their 30s. Treatment has come a long way, though, adding years to the lives of people with DMD.

This article will explore how DMD develops, what symptoms to expect, and how the condition is treated.

Hardstock/Getty Images

a person in a wheelchair strapped in for safety

Duchenne Muscular Dystrophy Symptoms

Although a person is born with thegene mutationthat causes Duchenne muscular dystrophy, symptoms are not usually noticed until ages 2 or 3, when children start to walk and move around more independently.

The symptoms that appear depend on how far the disease has progressed and which muscle groups the damage has spread to.

Common symptoms of DMDinclude:

As the disease progresses, severe and even fatal complications can occur as muscle weakness affects the heart and respiratory systems. Many people with DMD die fromcardiacorrespiratory failure.

Muscular Dystrophy: Signs, Symptoms, and Complications

Thegene mutation that causes DMDis an X-linked recessive disorder, which means that it is passed down from mother to child.

Males—who only have one X chromosome—can develop the condition with just one copy of the damaged gene, while females with just one altered gene can be carriers of the mutation, without having active disease. The genetic pattern means that DMD is more common in boys than in girls.

How Genetic Disorders Are Inherited

Genetic RiskWomen who carry the affected gene have a 50% chance of having a son who develops DMD and a 50% chance of having a daughter who is a carrier of the gene. Men cannot pass DMD on to their sons, but their daughters will be carriers of the mutation.

Genetic Risk

Women who carry the affected gene have a 50% chance of having a son who develops DMD and a 50% chance of having a daughter who is a carrier of the gene. Men cannot pass DMD on to their sons, but their daughters will be carriers of the mutation.

The diagnosis of DMD begins with a physical examination and review of your personal and family medical history. If you have a known family history of DMD,genetic testingmay have already been done.

Once you are diagnosed, different tests will be used to evaluate the progression of the disease, especially to watch for the effects of the disease on the heart or lungs.

DMD SpecialistsIf you have DMD, you will likely need a lot of help with your daily activities. There will also be a range of healthcare providers involved in your care. Examples of specialists that you may see if you have DMD include a:Neurologist(treats conditions of the nerves, spinal cord, and brain)Orthopedist(treats conditions affecting the skeleton and its surrounding structures)Cardiologist(treats conditions of the heart and blood vessels)Pulmonologist(treats conditions of the respiratory system)Genetic counselor (assesses risk for inherited conditions)Physical therapist(treats problems with physical movement)Occupational therapist(helps people adapt physically to daily tasks and activities)

DMD Specialists

If you have DMD, you will likely need a lot of help with your daily activities. There will also be a range of healthcare providers involved in your care. Examples of specialists that you may see if you have DMD include a:Neurologist(treats conditions of the nerves, spinal cord, and brain)Orthopedist(treats conditions affecting the skeleton and its surrounding structures)Cardiologist(treats conditions of the heart and blood vessels)Pulmonologist(treats conditions of the respiratory system)Genetic counselor (assesses risk for inherited conditions)Physical therapist(treats problems with physical movement)Occupational therapist(helps people adapt physically to daily tasks and activities)

If you have DMD, you will likely need a lot of help with your daily activities. There will also be a range of healthcare providers involved in your care. Examples of specialists that you may see if you have DMD include a:

There is no cure for DMD, buttreatment options have improvedin recent decades. People who get optimal care have had years added to their lives. A number of clinical trials are in progress, and researchers are even exploring gene editing as a treatment option for DMD.

The main DMD treatments focus on addressing muscle weakness and the damage to the heart or lungs that can cause fatal complications. Examples of medications that are used to treat DMD include:

New types of medications are also being approved, the most recent being an injection called Amondys 45 (casimersen). The Food and Drug Administration (FDA) approved the treatment, which can increase dystrophin production in skeletal muscles, in May 2021.

Other newer medications for DMD include:

There are also other medications and treatments in various phases ofclinical trialsthat are being explored as potential DMD treatments.

Treatment Goals

There is no cure for DMD. Many of the treatments that are used for the condition focus on addressing symptoms like muscle weakness and heart or lung complications.

What Is Your Life Expectancy?

Duchenne muscular dystrophy is a progressive disease, which means that the symptoms will get worse over time. People with the condition will experience a gradual loss of function and increasing reliance on others around them for care and support.

DMD can also be challenging for the family and friends of someone with the condition. As DMD progresses, a person’s needs will increase, and it can be difficult for their loved ones to provide constant and ever-increasing care.

There are many organizations that support and resources to people with DMD as well as their caregivers, including:

7 Caregiver Support Groups of 2021

Tips for CaregiversPeople who live with chronic, progressive diseases have extensive needs. A person with DMD will need a lot of medical care, as well as help with their daily activities.Caregiving can be a full-time job for parents and other supporters of people with DMD, but there is support for caregivers such as home health care andrespite care.

Tips for Caregivers

People who live with chronic, progressive diseases have extensive needs. A person with DMD will need a lot of medical care, as well as help with their daily activities.Caregiving can be a full-time job for parents and other supporters of people with DMD, but there is support for caregivers such as home health care andrespite care.

People who live with chronic, progressive diseases have extensive needs. A person with DMD will need a lot of medical care, as well as help with their daily activities.

Caregiving can be a full-time job for parents and other supporters of people with DMD, but there is support for caregivers such as home health care andrespite care.

Summary

Duchenne muscular dystrophy is a progressive, genetic condition that mostly affects men. While women can inherit the gene, they are usually only carriers and do not have active symptoms.

Over time, DMD causes muscle weakness and eventually muscle loss. Early on, a person will have motor delays and falls. In later stages of the disease, a person will often develop heart and lung complications that are ultimately fatal.

A Word From Verywell

People who inherit an active form of DMD will face progressive weakness and may not live past the age of 40. If you have DMD, working closely with your medical team and having a strong support system are important for both you and your loved ones.

Frequently Asked QuestionsYes. The genetic mutation that causes DMD is passed through families. Men and women can both be affected, but men usually have active disease while women just carry the gene.There is no cure for DMD, but the life expectancy for people with this condition has increased. Ongoing clinical trials and new medications are being investigated to help slow the progression of the disease.If you carry the gene for DMD, there is a 50% chance that you will pass it on to your children. People who know that they carry the gene for DMD can work with a genetic counselor to discuss their risk of passing it on to their children.Learn MoreWhat Genomic Testing Can Tell You About Health RisksYes. While newer treatments have helped to slow the progression of the disease, the damage to the muscle cells cannot be stopped. Once the muscles in the heart and the lungs are affected, DMD usually causes fatal complications. Few people with DMD live beyond their 30s.

Yes. The genetic mutation that causes DMD is passed through families. Men and women can both be affected, but men usually have active disease while women just carry the gene.

There is no cure for DMD, but the life expectancy for people with this condition has increased. Ongoing clinical trials and new medications are being investigated to help slow the progression of the disease.

If you carry the gene for DMD, there is a 50% chance that you will pass it on to your children. People who know that they carry the gene for DMD can work with a genetic counselor to discuss their risk of passing it on to their children.Learn MoreWhat Genomic Testing Can Tell You About Health Risks

If you carry the gene for DMD, there is a 50% chance that you will pass it on to your children. People who know that they carry the gene for DMD can work with a genetic counselor to discuss their risk of passing it on to their children.

Learn MoreWhat Genomic Testing Can Tell You About Health Risks

Yes. While newer treatments have helped to slow the progression of the disease, the damage to the muscle cells cannot be stopped. Once the muscles in the heart and the lungs are affected, DMD usually causes fatal complications. Few people with DMD live beyond their 30s.

Coping With a Progressive Medical Condition

9 SourcesVerywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Muscular Dystrophy Association.Duchenne muscular dystrophy (DMD).Nozoe KT, Akamine RT, Mazzotti DR, et al.Phenotypic contrasts of Duchenne Muscular Dystrophy in women: Two case reports.Sleep Sci. 2016;9(3):129-133. doi:10.1016/j.slsci.2016.07.004Duan D, Goemans N, Takeda S. et al.Duchenne muscular dystrophy.Nat Rev Dis Primers.February 18, 2021;7(13). doi:10.1038/s41572-021-00248-3.National Institutes of Health.Duchenne muscular dystrophy. Updated November 2, 2021.National Institutes of Health, Genetic and Rare Diseases Information Center.Duchenne muscular dystrophy. Updated November 20, 2020.National Institutes of Health.DMD gene. Updated August 18, 2020.Min YL, et al.CRISP correction of Duchenne muscular dystrophy.Ann Rev Med. January 2019;70:239-255. doi:10.1146/annurev-med-081117-010451.U.S. Food and Drug Administration.FDA approves targeted treatment for rare Duchenne muscular dystrophy mutation. Updated February 25, 2021.Verhaart, I.E.C., Aartsma-Rus, A.Therapeutic developments for Duchenne muscular dystrophy.Nat Rev Neurol.July 2019. 15:373–386 doi:10.1038/s41582-019-0203-3

9 Sources

Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Muscular Dystrophy Association.Duchenne muscular dystrophy (DMD).Nozoe KT, Akamine RT, Mazzotti DR, et al.Phenotypic contrasts of Duchenne Muscular Dystrophy in women: Two case reports.Sleep Sci. 2016;9(3):129-133. doi:10.1016/j.slsci.2016.07.004Duan D, Goemans N, Takeda S. et al.Duchenne muscular dystrophy.Nat Rev Dis Primers.February 18, 2021;7(13). doi:10.1038/s41572-021-00248-3.National Institutes of Health.Duchenne muscular dystrophy. Updated November 2, 2021.National Institutes of Health, Genetic and Rare Diseases Information Center.Duchenne muscular dystrophy. Updated November 20, 2020.National Institutes of Health.DMD gene. Updated August 18, 2020.Min YL, et al.CRISP correction of Duchenne muscular dystrophy.Ann Rev Med. January 2019;70:239-255. doi:10.1146/annurev-med-081117-010451.U.S. Food and Drug Administration.FDA approves targeted treatment for rare Duchenne muscular dystrophy mutation. Updated February 25, 2021.Verhaart, I.E.C., Aartsma-Rus, A.Therapeutic developments for Duchenne muscular dystrophy.Nat Rev Neurol.July 2019. 15:373–386 doi:10.1038/s41582-019-0203-3

Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.

Muscular Dystrophy Association.Duchenne muscular dystrophy (DMD).Nozoe KT, Akamine RT, Mazzotti DR, et al.Phenotypic contrasts of Duchenne Muscular Dystrophy in women: Two case reports.Sleep Sci. 2016;9(3):129-133. doi:10.1016/j.slsci.2016.07.004Duan D, Goemans N, Takeda S. et al.Duchenne muscular dystrophy.Nat Rev Dis Primers.February 18, 2021;7(13). doi:10.1038/s41572-021-00248-3.National Institutes of Health.Duchenne muscular dystrophy. Updated November 2, 2021.National Institutes of Health, Genetic and Rare Diseases Information Center.Duchenne muscular dystrophy. Updated November 20, 2020.National Institutes of Health.DMD gene. Updated August 18, 2020.Min YL, et al.CRISP correction of Duchenne muscular dystrophy.Ann Rev Med. January 2019;70:239-255. doi:10.1146/annurev-med-081117-010451.U.S. Food and Drug Administration.FDA approves targeted treatment for rare Duchenne muscular dystrophy mutation. Updated February 25, 2021.Verhaart, I.E.C., Aartsma-Rus, A.Therapeutic developments for Duchenne muscular dystrophy.Nat Rev Neurol.July 2019. 15:373–386 doi:10.1038/s41582-019-0203-3

Muscular Dystrophy Association.Duchenne muscular dystrophy (DMD).

Nozoe KT, Akamine RT, Mazzotti DR, et al.Phenotypic contrasts of Duchenne Muscular Dystrophy in women: Two case reports.Sleep Sci. 2016;9(3):129-133. doi:10.1016/j.slsci.2016.07.004

Duan D, Goemans N, Takeda S. et al.Duchenne muscular dystrophy.Nat Rev Dis Primers.February 18, 2021;7(13). doi:10.1038/s41572-021-00248-3.

National Institutes of Health.Duchenne muscular dystrophy. Updated November 2, 2021.

National Institutes of Health, Genetic and Rare Diseases Information Center.Duchenne muscular dystrophy. Updated November 20, 2020.

National Institutes of Health.DMD gene. Updated August 18, 2020.

Min YL, et al.CRISP correction of Duchenne muscular dystrophy.Ann Rev Med. January 2019;70:239-255. doi:10.1146/annurev-med-081117-010451.

U.S. Food and Drug Administration.FDA approves targeted treatment for rare Duchenne muscular dystrophy mutation. Updated February 25, 2021.

Verhaart, I.E.C., Aartsma-Rus, A.Therapeutic developments for Duchenne muscular dystrophy.Nat Rev Neurol.July 2019. 15:373–386 doi:10.1038/s41582-019-0203-3

Meet Our Medical Expert Board

Share Feedback

Was this page helpful?Thanks for your feedback!What is your feedback?OtherHelpfulReport an ErrorSubmit

Was this page helpful?

Thanks for your feedback!

What is your feedback?OtherHelpfulReport an ErrorSubmit

What is your feedback?