This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|Calf muscle hypertrophy||
Increased size of calf muscles
Abnormality of cognition
|Delayed speech and language development||
Deficiency of speech development
Delayed language development
Delayed speech acquisition
|Elevated serum creatine phosphokinase||
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine kinase
|Progressive muscle weakness||0003323|
|Proximal muscle weakness||0003701|
|Skeletal muscle atrophy||
|Specific learning disability||0001328|
|Percent of people who have these symptoms is not available through HPO|
|Calf muscle pseudohypertrophy||0003707|
|Congestive heart failure||
Decreased muscle tone
Low muscle tone
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
Since the inheritance of DMD can be complicated, a family with a newly diagnosed child with DMD should speak with a
The U.S. Food and Drug Administration of United States approved Exondys 51 (eteplirsen) injection to treat people with DMD who have a change in the DMD
Because chronic use of corticosteroids can lead to side effects, and rapid withdrawal of corticosteroids can result in life-threatening complications, there are recommended guidelines on how to proceed with withdrawal. The PJ Nicholoff Protocol guides withdrawal from corticosteroids following long term treatment.
The Muscular Dystrophy Association (MDA) has current information about the medical management of DMD.
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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.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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
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