Monday, May 25, 2015 | 11:21 AM

Madisons Foundation - Moms And Dads In Search Of Needed Support

Duchenne Muscular Dystrophy
Monday, 03 November 2003
Sunday, 28 November 2004
Pseudohypertrophic muscular dystrophy
Additional entries in our database that you might find useful:   Becker Muscular Dystrophy (BMD)


Duchenne muscular dystrophy (DMD) is an inherited disorder of muscle that usually presents in early childhood with delay in reaching motor milestones. Initial symptoms include delays in sitting and standing independently. This disease causes muscle weakness that leads to a waddling walk and difficulty climbing. It was first described by the neurologist Guillaume Duchenne in the 1860s and is now thought to be caused by a defective gene that produces an abnormal muscle protein.


DMD is the most common of the rare muscular dystrophies and occurs in about 2 out of every 10,000 people. DMD can result from inheriting a defective gene from a parent or be caused by a new mutation. Roughly 40% of DMD is caused by spontaneous, or new, mutations. This means that the defective gene is not found in other family members. Duchenne muscular dystrophy is also an X-linked recessive disorder which means that it mainly affects boys. An X-linked disorder is caused by a gene on the X chromosome. A girl has two copies of the X chromosome, so if she inherits one X chromosome with a defective gene, she still has one copy of the normal functioning gene on the other X chromosome. This is why women can be asymptomatic, showing no symptoms, or be mildly affected by the disease. If a carrier female has a daughter, her daughter has a 50% chance inheriting the defective gene and becoming a carrier and a 50% chance of inheriting the normal gene and not being affected. If a carrier female has a son, that son has a 50% chance of inheriting the X chromosome without a defective gene and a 50% chance of inheriting the one with the defect. When males inherit the X with the defect, they do not have another X chromosome to provide the correct “blueprints” and override the defect. Some of the necessary genetic information may, therefore, be missing or incorrect, and could lead to disease. This is why we usually only see X-linked diseases in males.

Signs and Symptoms

Symptoms usually appear before age 6 years and may appear as early as infancy. This disease is characterized by progressive muscle weakness of the legs and pelvis and is often accompanied by a loss of muscle mass. Later, muscle weakness also occurs in the arms, neck, and respiratory muscles used in breathing. As a result, the child may have difficulty moving around, may suffer frequent falls and tire easily. The calf muscles enlarge as muscle tissue is slowly replaced by fat and connective tissue. Bones develop abnormally, causing skeletal deformities of the spine and other areas. Muscular weakness and skeletal changes may lead to frequent breathing disorders. The heart muscle is also affected and this leads to a decreased cardiac function. Boys use a maneuver, named Gower, to stand from a lying position, using their arms to compensate for weak pelvic muscles. Some degree of cognitive impairment which does not progressively get worse is common in children with DMD and affects their verbal ability more than their ability to perform other tasks. .

Possible Causes

This muscle disease is caused by mutations in the gene, called DMD, that carries instructions to make a protein called dystrophin. Dystrophin is a protein in the skeletal and cardiac muscle which is essential for the cells in muscles to work normally. Dystrophin helps to maintain the structure of muscle cells and thus “holds” muscles together. Without dystrophin, muscles are unable to function properly and eventually deteriorate. In DMD there is a mutation that causes little or no dystrophin to be made.


Diagnosis of DMD is based on the family history, clinical findings and several tests: 1. Blood CPK (an enzyme that leaks out of damaged muscle). 2. Neurologic exam demonstrates weakness and lack of coordination or balance. 3. EMG (electromyography) shows that weakness is caused by destruction of muscle tissue rather than nerve damage. 4. Genetic testing and a muscle biopsy confirm the diagnosis. Molecular genetic testing of the DMD gene is available and can establish the diagnosis in the majority of cases of DMD. In the remaining cases of DMD a combination of clinical findings, family history, serum CPK concentration, and muscle biopsy with dystrophin studies confirms the diagnosis.


There is no known cure for DMD. Treatment is aimed at controling symptoms to maximize the quality of life. Activity is encouraged, as inactivity (such as bedrest) can worsen the muscle disease. Appropriate management can prolong survival and improve quality of life. Major issues are: • Weight control to avoid obesity • Physical therapy to promote mobility and strength • Monitoring and surgical intervention, as needed, for orthopedic complications, especially scoliosis • Orthopedic appliances (such as braces and wheelchairs) help to improve mobility • Beginning at the time of diagnosis, routine monitoring by a cardiologist for evidence of cardiomyopathy in individuals with severe muscle disease. • Aggressive medical management with anti-congestive medications. • Medications


DMD results in rapidly progressive disability. The average age of walking is about 18 months. By age 10, braces may be required for walking, and by age 12, most children have lost their ability to walk, needing the aid of a wheelchair. DMD also affects the heart muscle with heart problems occurring in all children after 18 years of age. Few survive beyond the third decade, with breathing and heart complications being common causes of death.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.


Medline Plus DMD article
A clear, concise summary Parent Project for Muscular Dystrophy
Everything you need to know about DMD containing medical information, up to date news and events, treatments, support group connections, great links, a must see for DMD families

Muscular Dystrophy Association
Another great site, with an abundance of information including pictures and clear explanations of DMD from physicians to family members, videos, community programs etc. information available in Spanish.

The Haynes Family's Duchenne Muscular Dystrophy Info Page
A personal webpage with many links to the latest DMD research and information.

MADISONS Foundation is including the below as an option, not as an endorsement. We assume no liability:

Sanguine is seeking blood donations from patients diagnosed with Duchenne Muscular Dystrophy (DMD) for use in a pre-clinical research study. Blood donations will be used to develop new treatments and diagnostics for DMD. Just follow the steps below:

- Sign up here: - Sanguine will contact you to ensure the donor fits the criteria for the study. - We will reimburse you $50 for your time and donate $25 to a charity of your choice!

Donor inclusion criteria: - Donor must be 18 years or older - Donor must have proof of diagnosis for Duchenne Muscular dystrophy (DMD) - Donor must live within 100 miles of participating cities

Participating cities: Boston, MA Chicago, IL Cincinnati, OH Detroit, MI Houston, TX Las Vegas, NV Los Angeles, CA Louisville, KY New York, NY Orlando FL Philadelphia, PA Raleigh-Durham, NC San Diego, CA San Francisco, CA San Jose, CA Seattle, WA Tampa, FL Trenton, NJ Washington, DC

Google Search for Duchenne Muscular Dystrophy

References and Sources