Skip to main content
Update Location

My Location

Update your location to show providers, locations, and services closest to you.

Enter a zip code
Or
Select a campus/region

Duchenne muscular dystrophy

Definition

Duchenne muscular dystrophy is an inherited disorder. It involves muscle weakness, which quickly gets worse.

Alternative Names

Pseudohypertrophic muscular dystrophy; Muscular dystrophy - Duchenne type

Causes

Duchenne muscular dystrophy is a form of muscular dystrophy. It worsens quickly. Other muscular dystrophies (including Becker muscular dystrophy) get worse much more slowly.

Duchenne muscular dystrophy is caused by a defective gene for dystrophin (a protein in the muscles). However, it often occurs in people without a known family history of the condition.

The condition most often affects boys due to the way the disease is inherited. The sons of women who are carriers of the disease (women with a defective gene, but no symptoms themselves) each have a 50% chance of having the disease. The daughters each have a 50% chance of being carriers. Very rarely, a female can be affected by the disease

Duchenne muscular dystrophy occurs in about 1 out of every 3,600 male infants. Because this is an inherited disorder, risks include a family history of Duchenne muscular dystrophy.

Symptoms

Symptoms most often appear before age 6. They may start as early as infancy. Most boys show no symptoms in the first few years of life.

Symptoms may include:

  • Fatigue
  • Learning difficulties (the IQ can be below 75).
  • Intellectual disability (possible, but does not get worse over time).

Muscle weakness:

  • Begins in the legs and pelvis, but also occurs less severely in the arms, neck, and other areas of the body.
  • Problems with motor skills (running, hopping, jumping).
  • Frequent falls.
  • Trouble getting up from a lying position or climbing stairs.
  • Shortness of breath, fatigue, and swelling of the feet due to a weakening of the heart muscle.
  • Problem breathing due to a weakening of the respiratory muscles.
  • Gradual worsening of muscle weakness.

Progressive difficulty walking:

  • Ability to walk may be lost by age 12, and the child will have to use a wheelchair.
  • Breathing difficulties and heart disease usually start by age 20.

Exams and Tests

A complete nervous system (neurological), heart, lung, and muscle exam may show:

  • Abnormal, sick heart muscle (cardiomyopathy) becomes evident by age 10
  • Congestive heart failure or irregular heart rhythm (arrhythmias) is present in all people with Duchenne muscular dystrophy by the age of 18
  • Deformities of the chest and back (scoliosis)
  • Enlarged muscles of the calves, buttocks, and shoulders (around age 4 or 5). These muscles are eventually replaced by fat and connective tissue (pseudohypertrophy).
  • Loss of muscle mass (wasting)
  • Muscle contractures in the heels, legs
  • Muscle deformities
  • Respiratory disorders, including pneumonia and swallowing with food or fluid passing into the lungs (in late stages of the disease)

Tests may include:

Treatment

There is no known cure for Duchenne muscular dystrophy. Treatment aims to control symptoms to improve quality of life.

Steroid drugs can slow the loss of muscle strength. They may be started when the child is diagnosed or when muscle strength begins to decline.

Other treatments may include:

  • Albuterol - a drug used for people with asthma
  • Amino acids
  • Carnitine
  • Coenzyme Q10
  • Creatine
  • Fish oil
  • Green tea extracts
  • Vitamin E

However, the effects of these treatments have not been proven. Stem cells and gene therapy may be used in the future.

Genetic therapies may be helpful to certain patients, depending on the genetic cause. Each therapy only works on a small number of patients, depending on their specific mutation. Treatments include:

  • Eteplirsen
  • Golodirsen
  • Vitolarsen
  • Casimersen
  • Ataluren

The use of steroids and the lack of physical activity can lead to excessive weight gain. Activity is encouraged. Inactivity (such as bedrest) can make the muscle disease worse. Physical therapy may help to maintain muscle strength and function. Speech therapy is often needed.

Other treatments may include:

  • Assisted ventilation (used during the day or night)
  • Drugs to help heart function, such as angiotensin-converting-enzyme inhibitors, beta-blockers, and diuretics
  • Orthopedic appliances (such as braces and wheelchairs) to improve mobility
  • Spine surgery to treat progressive scoliosis for some people
  • Proton pump inhibitors (for people with gastroesophageal reflux)

Several new treatments are being studied in trials.

Support Groups

You can ease the stress of illness by joining a support group where members share common experiences and problems. The Muscular Dystrophy Association is an excellent source of information on this disease.

Outlook (Prognosis)

Duchenne muscular dystrophy leads to progressively worsening disability. Death often occurs from lung disorders, although advances in supportive care have resulted in many men living to age 35 years.

Possible Complications

Complications may include:

  • Cardiomyopathy
  • Congestive heart failure (rare)
  • Deformities
  • Heart arrhythmias (rare)
  • Mental impairment (varies, usually minimal)
  • Permanent, progressive disability, including decreased mobility and decreased ability to care for self
  • Pneumonia or other respiratory infections
  • Respiratory failure

When to Contact a Medical Professional

Contact your health care provider if:

  • Your child has symptoms of Duchenne muscular dystrophy
  • Symptoms get worse, or new symptoms develop, particularly fever with cough or breathing problems

Prevention

People with a family history of the disease may want to seek genetic counseling. Genetic studies done during pregnancy are very accurate in detecting Duchenne muscular dystrophy.

Gallery

X-linked recessive genetic defects - how boys are affected
There are several X-linked (or sex-linked) recessive genetic disorders, (hemophilia, muscular dystrophy) which are inherited through a genetic defect on an X chromosome. A female has 2 X chromosomes, one she inherited from her mother and one she got from her father. A male has an X chromosome from his mother and a Y chromosome from his father. Since male offspring receive their X chromosome from their mothers, the inheritance of a defect attached to that one copy of the X will cause the disorder.
X-linked recessive genetic defects - how boys are affected
There are several X-linked (or sex-linked) recessive genetic disorders, (hemophilia, muscular dystrophy) which are inherited through a genetic defect on an X chromosome. A female has 2 X chromosomes, one she inherited from her mother and one she got from her father. A male has an X chromosome from his mother and a Y chromosome from his father. Since male offspring receive their X chromosome from their mothers, the inheritance of a defect attached to that one copy of the X will cause the disorder.
Autosomal recessive
Autosomal recessive is one of several ways that a trait, disorder, or disease can be passed down through families. An autosomal recessive disorder means two copies of an abnormal gene must be present in order for the disease or trait to develop. For a child born to a couple who both carry the gene (but do not have signs of disease), the expected outcome for each pregnancy is: a 50% chance that the child is born with one normal and one abnormal gene (carrier, without disease), a 25% chance that the child is born with two normal genes (normal), and a 25% chance that the child is born with two abnormal genes (at risk for the disease). Note: These outcomes do not mean that the children will definitely be carriers or be severely affected.

References

Bharucha-Goebel DX. Muscular dystrophies. In: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 627.

Genetic and Rare Diseases Information Center (GARD). Duchenne muscular dystrophy. rarediseases.info.nih.gov/diseases/6291/duchenne-muscular-dystrophy. Updated November 8, 2021. Accessed June 3, 2022.

Muscular Dystrophy Association website. Duchenne muscular dystorphy. www.mda.org/disease/duchenne-muscular-dystrophy. Accessed March 30, 2022.

Selcen D. Muscle diseases. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 26th ed. Philadelphia, PA: Elsevier; 2020:chap 393.

Warner WC, Sawyer JR. Neuromuscular disorders. In: Azar FM, Beaty JH, eds. Campbell's Operative Orthopaedics. 14th ed. Philadelphia, PA: Elsevier; 2021:chap 35.

Last reviewed November 9, 2021 by Joseph V. Campellone, MD, Department of Neurology, Cooper Medical School at Rowan University, Camden, NJ. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. Editorial update 06/03/2022..

Related specialties

Our locations

Our experts

Clinical Trials: Duchenne muscular dystrophy

UF Health research scientists make medicine better every day. They discover new ways to help people by running clinical trials. When you join a clinical trial, you can get advanced medical care. Sometimes years before it's available everywhere. You can also help make medicine better for everyone else. If you'd like to learn more about clinical trials, visit our clinical trials page. Or click one of the links below:

Pfizer Early Stage GT

The study will evaluate the safety and dystrophin expression following gene therapy in boys with Duchenne Muscular Dystrophy (DMD). It is a single-arm, non-randomized, open-label study

Investigator
Barry J Byrne
Status
Accepting Candidates
Ages
2 Years - 3 Years
Sexes
Male
Edgewise-210

The LYNX study is a 2-part, multicenter, Phase 2 study of safety, pharmacokinetics and biomarkers in children with Duchenne muscular dystrophy including a randomized, double-blind, placebo-controlled part A, followed by an open-label part B.

Investigator
Renata Shih
Status
Accepting Candidates
Ages
4 Years - 9 Years
Sexes
Male

News and Patient Stories: Duchenne muscular dystrophy

More Duchenne muscular dystrophy stories