The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Calf muscle pseudohypertrophy||-|
|Congestive heart failure||-|
|Elevated serum creatine phosphokinase||-|
|Intellectual disability, mild||-|
|X-linked recessive inheritance||-|
In about two thirds of cases, an affected male inherits the mutation from a mother who carries an altered copy of the DMD gene. The other one third of cases probably result from new mutations in the gene.
In X-linked recessive inheritance, a female with one mutated copy of the gene in each cell is called a carrier. She can pass on the altered gene, but usually does not experience signs and symptoms of the disorder. Occasionally, however, females who carry a DMD mutation may have muscle weakness and cramping. These symptoms are typically milder than the severe muscle weakness and atrophy seen in affected males. Females who carry a DMD mutation also have an increased risk of developing heart abnormalities including dilated cardiomyopathy.
Physical activity is encouraged for individuals with Duchenne muscular dystrophy. Physical inactivity (such as bed rest) can worsen the muscle disease. Physical therapy may be helpful to maintain muscle strength and function. Orthopedic devices (such as braces and wheelchairs) may improve the ability to move and take care of oneself.
Steroids are usually given to individuals with Duchenne muscular dystrophy to help improve the strength and function of muscles. There are a few different steroids that can be used to treat DMD:
There are several other therapies that are also being researched, including exon skipping drugs, coenzyme Q10, idebenone, glutamine, and pentoxifylline.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
CRISPR Helps Heal Mice with Muscular Dystrophy
January 12, 2016
New Directions in Biology and Disease of Skeletal Muscle
Sunday, June 29, 2014 -
Wednesday, July 2, 2014
Location: Chicago, IL
Description: The goals of the New Directions conference are to: (1) provide a unique forum for presentation and sharing of unpublished data, (2) promote collaboration between industry and academic investigators, (3) provide an interactive forum for clinical trial planning and outcome measure development, (4) facilitate the identification of both common and unique targets for each neuromuscular disease, and (5) provide trainees and young investigators a forum in which to present data and to encourage trainees to remain studying neuromuscular disease.
Contact: Dr. John D. Porter, 301-496-5739,firstname.lastname@example.org
Co-funding Institute(s): National Institute of Neurological Disorders and Stroke, Office of Rare Diseases Research
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Are there any other diseases with the same symptoms as Duchenne muscular dystrophy? Can Silver-Russell syndrome mimic muscular dystrophy? See answer
I am a carrier of Duchenne muscular dystrophy. I am experiencing some symptoms which I believe go beyond the realm of aging. Upon reflection, other women in my family also experienced symptoms, including loss of feeling in the legs and heart failure. Can carrier females of Duchenne muscular dystrophy exhibit symptoms? See answer
Several members of my husband's family are carriers of Duchenne and Becker muscular dystrophy. My husband does not have the disease. What are the chances of passing on this condition to any children we may have? See answer
I am the parent of a 10-year-old boy with Duchenne muscular dystrophy (DMD). We are seeking information on his specific mutation, he is missing 2 nucleotides on exon 44 causing a frameshift onto exon 45 resulting in mild DMD or severe Becker symptoms. We can't locate any other person with that specific mutation. We have used the Leiden Data Base and Duchenne Connect, and we have asked an expert at the University of Utah. We are trying to determine the potential course this disease will take. Can you offer any suggestions as to how we can find out if another person has the same mutation? See answer
Is there treatment available to cure Duchenne muscular dystrophy or slow the progression of symptoms? See answer