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Disease Profile
Duchenne muscular dystrophy
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000
Age of onset
Childhood
ICD-10
G71.0
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Muscular dystrophy, Duchenne; DMD; Muscular dystrophy, pseudohypertrophic progressive, Duchenne type
Categories
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Eye diseases;
Summary
Duchenne muscular dystrophy (DMD) affects the muscles, leading to muscle wasting that gets worse over time. DMD occurs primarily in males, though in rare cases may affect females. The symptoms of DMD include progressive weakness and loss (atrophy) of both skeletal and heart muscle. Early signs may include delayed ability to sit, stand, or walk and difficulties learning to speak. Muscle weakness is usually noticeable in early childhood. Most children with DMD use a wheelchair by their early teens. Heart and breathing problems also begin in the teen years and lead to serious, life threatening complications. DMD is caused by genetic changes (DNA variants) in the DMD
Becker muscular dystrophy (BMD), a milder form of muscular dystrophy, is also caused by
Symptoms
- Delayed motor development (taking longer to learn to sit, stand, or walk)
- Enlarged calf muscles (pseudohypertrophy)
- Muscle weakness that gets worse over time
- Toe walking or waddling gait
- Using hands to get up off the floor (Gower's maneuver)
- Progressive enlargement of the heart (
cardiomyopathy )
The first symptoms of DMD usually occur in boys in early childhood, and include muscle weakness and clumsiness. Developmental milestones such as sitting and walking are often delayed. By the early teens, most boys with DMD are using a wheelchair. Breathing problems occur due to weakness of the diaphragm and the other muscles around the lungs.
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 |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Calf muscle hypertrophy |
Increased size of calf muscles
|
0008981 |
Cardiomyopathy |
Disease of the heart muscle
|
0001638 |
Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ] |
0100543 |
Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ] |
0000750 |
Elevated serum creatine kinase |
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine phosphokinase
High serum creatine kinase
Increased CPK
Increased creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase
[ more ] |
0003236 |
Flexion contracture |
Flexed joint that cannot be straightened
|
0001371 |
Global |
0001263 | |
Motor delay | 0001270 | |
Progressive muscle weakness | 0003323 | |
Proximal muscle weakness |
Weakness in muscles of upper arms and upper legs
|
0003701 |
Respiratory insufficiency |
Respiratory impairment
|
0002093 |
Scoliosis | 0002650 | |
Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ] |
0003202 |
Specific learning disability | 0001328 | |
Waddling gait |
'Waddling' gait
Waddling walk
[ more ] |
0002515 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormal EKG |
Abnormal ECG
|
0003115 |
Arrhythmia |
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ] |
0011675 |
Calf muscle pseudohypertrophy | 0003707 | |
Childhood onset |
Symptoms begin in childhood
|
0011463 |
Congestive heart failure |
Cardiac failure
Cardiac failures
Heart failure
[ more ] |
0001635 |
Dilated cardiomyopathy |
Stretched and thinned heart muscle
|
0001644 |
Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Gowers sign | 0003391 | |
Hyperlordosis |
Prominent swayback
|
0003307 |
Hyporeflexia |
Decreased reflex response
Decreased reflexes
[ more ] |
0001265 |
Hypoventilation |
Slow breathing
Under breathing
[ more ] |
0002791 |
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ] |
0001256 | |
Muscular dystrophy | 0003560 | |
Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
Respiratory failure | 0002878 | |
0001419 |
Cause
Different DNA variants in the DMD gene can cause a spectrum of disorders known as dystrophinopathies. The dystrophinopathies can range from very mild symptoms to the more severe symptoms seen in people with DMD. Other dystrophinopathies include Becker muscular dystrophy (BMD) and DMD-associated dilated
Diagnosis
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Treatment
Specialists who may be involved in the care of someone with DMD may include:[2][3][4]
Neurologist Orthopedist Cardiologist Pulmonologist (lung specialist)Medical geneticist Physical therapist Occupational therapist
Management Guidelines
- Orphanet Emergency Guidelines is an article which is expert-authored and peer-reviewed that is intended to guide health care professionals in emergency situations involving this condition.
- Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.
FDA-Approved Treatments
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.
- Deflazacort(Brand name: Emflaza) Manufactured by PTC Therapeutics
FDA-approved indication: February 2017, deflazacort (Emflaza) was approved for the treatment of Duchenne Muscular Dystrophy in patients 5 years of age and older.
National Library of Medicine Drug Information Portal
Medline Plus Health Information - Eteplirsen(Brand name: Exondys 51) Manufactured by Sarepta Therapeutics, Inc.
FDA-approved indication: September 2016, eteplirsen (Exondys 51) was approved for the treatment of Duchenne muscular dystrophy (DMD) in patients who have a confirmedmutation of the DMDgene that is amenable toexon 51 skipping.
National Library of Medicine Drug Information Portal - Golodirsen(Brand name: Vyondys 53) Manufactured by Sarepta Therapeutics, Inc.
FDA-approved indication: December 2019, golodirsen (VYONDYS 53) was approved for the treatment of Duchenne muscular dystrophy (DMD) in patients who have a confirmed mutation of the DMD gene that is amenable to exon 53 skipping.
National Library of Medicine Drug Information Portal
Related diseases
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.
|
Organizations
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.
Organizations Supporting this Disease
-
Coalition Duchenne
1300 Quail St, Suite 100
Newport Beach , CA 92660
Telephone: +1-714-801-4616
E-mail: [email protected]
Website: https://www.coalitionduchenne.org -
CureDuchenne
1400 Quail Street, Suite 110
Newport Beach, CA 92660
Telephone: +1-949-872-2552
E-mail: [email protected]
Website: https://www.cureduchenne.org/ -
Jett Foundation
36 Cordage Park Circle
Suite 328
Plymouth, MA 02360
Telephone: 781-585-5566
E-mail: [email protected]
Website: https://www.jettfoundation.org/ -
Parent Project Muscular Dystrophy
401 Hackensack Avenue, 9th Floor
Hackensack, NJ 07601
Toll-free: 1-800-714-5437
Telephone: +1-201-250-8440
Fax: +1-201-250-8435
E-mail: [email protected]
Website: https://www.parentprojectmd.org/
Organizations Providing General Support
-
Muscular Dystrophy Association (MDA)
222 S Riverside Plaza
Suite 1500
Chicago, IL 60606
Toll-free: 1-833-275-6321 (Helpline)
E-mail: [email protected]
Website: https://www.mda.org -
Muscular Dystrophy UK
61A Great Suffolk Street
London, SE1 0BU United Kingdom
Toll-free: 0800 652 6352 (Helpline)
Telephone: (+44) 0 020 7803 4800
E-mail: [email protected]
Website: https://www.musculardystrophyuk.org/
Learn more
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.
Where to Start
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- MedlinePlus Genetics contains information on Duchenne muscular dystrophy. This website is maintained by the National Library of Medicine.
- The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Duchenne muscular dystrophy. Click on the link to view a sample search on this topic.
Resources for Kids
- BrainPOP presents the topic of Duchenne muscular dystrophy in a short, animated movie. BrainPOP produced this video in partnership with Parent Project Muscular Dystrophy, this four minute video strives to provide kids of all ages with a clear understanding of Duchenne.
References
- Darras BT, Urion DK, Ghosh PS. Dystrophinopathies. GeneReviews®. Updated Apr 26, 2018; https://www.ncbi.nlm.nih.gov/books/NBK1119/.
- Birnkrant DJ, Bushby K, Bann CM, Alman BA, Apkon SD, et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management.. Lancet Neurol. 2018; 17(4):347-361. https://pubmed.ncbi.nlm.nih.gov/29395990.
- Birnkrant DJ, Bushby K, Bann CM, Apkon SD, Blackwell A et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management [published correction appears in Lancet Neurol. 2018 Apr 4]. Lancet Neurol. 2018; 17(3):251-267. https://pubmed.ncbi.nlm.nih.gov/29395989.
- Birnkrant DJ, Bushby K, Bann CM, Apkon SD, Blackwell A et al. Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan. Lancet Neurol. 2018; 17(5):445-455. https://pubmed.ncbi.nlm.nih.gov/29398641.
- Landfeldt E, Thompson R, Sejersen T, McMillan HJ, Kirschner J, Lochmüller H.. Life expectancy at birth in Duchenne muscular dystrophy: a systematic review and meta-analysis. Eur J Epidemiol. Feb 2020; 10:https://pubmed.ncbi.nlm.nih.gov/32107739.
- Rae MG, O'Malley D. Cognitive dysfunction in Duchenne muscular dystrophy: a possible role for neuromodulatory immune molecules. J Neurophysiol. September 1 2016; 116(3):1304-15. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5023417/.
- Aartsma-Rus A, Ginjaar IR & Bushby K. The importance of genetic diagnosis for Duchenne muscular dystrophy. BMJ. 53(3):https://jmg.bmj.com/content/53/3/145.
- Koeks Z, Bladen CL, Salgado D, van Zwet E, Pogoryelova O, et al. Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database. J Neuromuscul Dis. 2017;4(4):293-306.. 2017; 4(4):293-306. https://pubmed.ncbi.nlm.nih.gov/29125504.
- Verhaart IEC, Aartsma-Rus A. Therapeutic developments for Duchenne muscular dystrophy.. Nat Rev Neurol. 2019; 15(7):373-386. https://pubmed.ncbi.nlm.nih.gov/31147635.
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