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
Disease of the heart muscle
Abnormality of cognition
Mental impairment[ more ]
|Delayed speech and language development||
Deficiency of speech development
Delayed language development
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay[ more ]
|Elevated serum creatine phosphokinase||
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine kinase
High serum creatine kinase
Increased creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase[ more ]
|Progressive muscle weakness||0003323|
|Proximal muscle weakness||
Weakness in muscles of upper arms and upper legs
Abnormal curving of the spine
|Skeletal muscle atrophy||
Muscle wasting[ more ]
|Specific learning disability||0001328|
Waddling walk[ more ]
|Percent of people who have these symptoms is not available through HPO|
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat[ more ]
|Calf muscle pseudohypertrophy||0003707|
Symptoms begin in childhood
|Congestive heart failure||
Heart failure[ more ]
Stretched and thinned heart muscle
Decreased muscle tone
Low muscle tone[ more ]
Decreased reflex response
Decreased reflexes[ more ]
Under breathing[ more ]
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation[ more ]
Low or weak muscle tone
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.
Learn more orphan products.
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include severe Becker muscular dystrophy and the limb girdle muscular dystrophies (see these terms). Antenatal diagnosis is possible for families in which the diagnosis has been confirmed by molecular testing.
Visit the Orphanet disease page for more information.
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.
The NIH Undiagnosed Diseases Network Expands
September 26, 2018
Gene Editing in Dogs Boosts Hope for Kids with Muscular Dystrophy
September 12, 2018
CRISPR Helps Heal Mice with Muscular Dystrophy
January 12, 2016
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
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