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||-|
|Elevated serum creatine phosphokinase||-|
|X-linked recessive inheritance||-|
In about two thirds of cases, an affected male inherits the mutation from his mother who carries a mutated copy of the DMD gene. The other third of cases probably result from new mutations in the gene.
Exams in a person with BMD may reveal:
Laboratory tests that help confirm the diagnosis include:
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.
2016 Million Dollar Bike Ride Pilot Grant Program
August 15, 2016
GARD Information Navigator
May 10, 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,email@example.com
Co-funding Institute(s): National Institute of Neurological Disorders and Stroke, Office of Rare Diseases Research
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
What is the incidence of this disorder? See answer
My son was just diagnosed with BMD, he has always been a little slow in school and has a real hard time learning new things. Does BMD affect learning? See answer
Knowing that Becker's can occur at any time up until the person is 30, can a teen do strenuous exercises to possibly help prevent Becker's from becoming active later in life? If not, can strenuous exercises at least slow down the process of Becker's completely wiping out one's ability to use their muscles as they could before the process even started? See answer
I am a physician who frequently sees patients with Becker muscular dystrophy. Can you provide me with patient-friendly information about this condition? 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