Rare Nephrology News

Disease Profile

Duchenne muscular dystrophy

Prevalence
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

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

Age of onset

Childhood

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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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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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 gene. DMD is inherited in an X-linked recessive pattern and may occur in people who do not have a family history of DMD. Diagnosis of DMD is based on the symptoms, clinical exam, and the result of a biopsy to remove a small piece of muscle for examination under a microscope. The result of genetic testing may also help confirm the diagnosis. While there is no known cure for DMD, there are treatments that can help control symptoms.[1][2][3][4][5]

Becker muscular dystrophy (BMD), a milder form of muscular dystrophy, is also caused by DNA variants in the DMD gene.

Symptoms

The following list includes the most common signs and symptoms in people with Duchenne muscular dystrophy (DMD). These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition.

Symptoms may include:[1][6]

  • 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. Scoliosis and tight joints (contractures) may develop as muscle loss gets worse. Breathing problems and progressive enlargement of the heart may become life-threatening. Learning and memory issues (cognitive impairment) may occur in some cases, but do not worsen as DMD progresses.[1][2][3][4]

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 developmental delay
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 hypotonia
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
Intellectual disability, mild
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
X-linked recessive inheritance
0001419

Cause

Duchenne muscular dystrophy (DMD) is occurs when the DMD gene is not working correctly. DNA changes known as pathogenic variants are responsible for making genes work incorrectly or sometimes, not at all.[1] 

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 cardiomyopathy (DCM).[1]

Diagnosis

Duchenne muscular dystrophy (DMD) is diagnosed in young boys based on clinical examination, signs and symptoms, family history, and may be confirmed by the results of genetic testing. A muscle biopsy may be done to remove a small piece of muscle for examination under a microscope. Blood tests looking for increased levels of certain special proteins called muscle enzymes are used to check for muscle damage.[1][7] 

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

    There is no known cure for Duchenne muscular dystrophy (DMD). Treatment is focused on managing the symptoms of DMD and related complications caused by severe progressive muscle weakness and loss. Medications (such as steroids) may improve the strength and function of muscles.[8] Additional medications are available for people with DMD with a specific DNA variant. These can help improve muscle strength and function. An enlarged, weakened heart (dilated cardiomyopathy) may be treated with medications, but in severe cases, a heart transplant may be necessary. Assistive devices for breathing difficulties may be needed, especially at night and as the disease progresses.

    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.

      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

        Organizations Providing General Support

          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

                1. Darras BT, Urion DK, Ghosh PS. Dystrophinopathies. GeneReviews®. Updated Apr 26, 2018; https://www.ncbi.nlm.nih.gov/books/NBK1119/.
                2. 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.
                3. 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.
                4. 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.
                5. 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.
                6. 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/.
                7. 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.
                8. 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.
                9. 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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