Duchenne muscular dystrophy (DMD) is an inherited muscle-wasting disease within the group of conditions referred to as muscular dystrophy.^1,2 DMD presents from early childhood and is characterised by severe muscle weakness and muscle loss (atrophy/muscle wasting).^3,4 It is a progressive condition, which means that the symptoms worsen over time.⁵ Early symptoms involve delays in developmental milestones, including walking and speech. This often progress to needing to use a wheelchair as well as issues affecting the heart and breathing (respiratory).¹

DMD is a genetic condition. It is caused by disease-causing genetic changes (variants) in a very large gene called the DMD gene found on the X chromosome.⁶ Individuals with DMD are typically males, but females can also be affected with milder symptoms.^1,7 There are also female carriers who can pass on the genetic variants to their children but are unaffected.^1,5

Genetic variants in the DMD gene can also cause a different type of muscular dystrophy called Becker muscular dystrophy (BMD) which usually has a milder disease presentation compared to Duchenne muscular dystrophy.¹

Synonyms: Severe dystrophinopathy, Duchenne type.⁴

Universal rare disease classifications provide a common language for recording, reporting and monitoring diseases. Please visit the Rare Disease Classifications page for more information about these internationally recognised classifications.

ORPHA:98896 Duchenne muscular dystrophy

ICD-11: 8C70.1 Duchenne muscular dystrophy

DMD typically presents during early childhood, with delays in developmental milestones, such as walking independently and learning to talk.³ The symptoms worsen over time as the disease progresses. Children may start to walk with a waddling gait, have frequent falls, and have difficulty climbing stairs or getting up from a sitting or lying down (supine) position (Gower’s sign).⁵ They eventually progress to requiring the use of a wheelchair.^1,3,6 Some individuals, but not all, may be impacted by learning difficulties.

As the disease progresses, the muscles relating to the heart (cardiac) and breathing (respiratory) tend to become affected. Individuals with DMD may develop life-threatening complications involving the heart muscle (cardiomyopathy) and decreased respiratory function by their late teens or early twenties.^1,3,6

Please speak to your medical team to learn more about the symptoms and complications of DMD.

Rare diseases are often serious and progressive, exhibiting a high degree of symptom complexity, leading to significant disability. Majority of the estimated two million Australians living with a rare disease meet the Australian Government’s definition for disability (in accordance to the Australian Public Service Commission and Australian Bureau of Statistics), and many experience severe and permanent disability impacts. If you or someone you care for is experiencing disability-related impacts from a rare condition, please speak with a health or disability professional for advice. Information about relevant disability support can be found at the RARE Portal’s Disability Support Information page.

DMD and Becker muscular dystrophy (BMD) are both genetic conditions caused by disease-causing genetic variants (changes) in the DMD gene on the X chromosome.^1,6 These genetic variants include single base changes (sequence variants/ a single letter changes in the genetic code), deletions, duplications, insertions and other changes.¹ For more information on different types of genetic variants, please refer to Centre for Genetics Education: Types of genetic variation.

The DMD gene is a very large gene responsible for making the dystrophin protein that is important for muscle stability, function and strength. In DMD, the genetic changes result in no normal (functional) dystrophin protein being made, whilst in BMD, there is still dystrophin protein but at lower amounts than normal or is only partially functional.^1,3

These genetic variants may be inherited from parents in a X-linked recessive manner or may occur randomly in the individual prior to birth(de novo).⁴ Both males and females can be affected, but these conditions are more common in males.^1,6 As males only have one X chromosome, they have one copy of the DMD gene, so if their DMD gene has the disease-causing genetic variant, they will have DMD or BMD. Females have two X chromosomes and two copies of the DMD gene – in most cases, genetic variants have to occur in both copies to cause the condition, however in some cases genetic variants in one copy is enough to result in some symptoms.⁶ Females with genetic variants in one copy are called “carriers” and can pass on the genetic variants to their children whether they have symptoms or not (asymptomatic). More information on X-linked inheritance pattern can be found at Centre for Genetics Education: X-linked inheritance.

If you would like to learn more about the inheritance and impact of this condition, please ask your doctor for a referral to a genetic counsellor. Genetic counsellors are qualified allied health professionals who can provide information and support regarding genetic conditions and testing. More information about genetic counselling can be found at:

• Information on Genetic Services
• The National and State Services pages underneath the ‘Genetic Counselling’ sections listed

Diagnosis of DMD may involve clinical examination of symptoms, blood tests to look for increased levels of creatine kinase (CK) enzyme, and genetic testing to look for genetic variants in the DMD gene.^5,7 If the results of the genetic tests are unclear (inconclusive), a muscle biopsy may be recommended to look for dystrophin in the muscle.⁷

A differential diagnosis can rule out other conditions with similar symptoms, such as severe Becker muscular dystrophy and limb girdle muscular dystrophy.⁵

Please speak to your medical team to learn more about the available diagnostic pathways for DMD.

There is currently no curative treatment for DMD. Treatment is targeted at managing symptoms (symptomatic management), slow progression of the disease and reduce the risk of life-threatening complications.^2,7 This involves a multidisciplinary team, and may include:^3,5,7

• use of corticosteroids to slow down disease progression
• physiotherapy to build muscle strength and prevent shortening of muscles (contractures)
• monitoring for development of scoliosis (sideways curvature of the spine)
• regular monitoring of heart and breathing (respiratory) function

Information on relevant mobility equipment and other assistive technology can be found at The Loop – Your Neuromuscular Resource Hub: Equipment.

Please speak to your medical team to learn more about the possible treatment or management options for your condition. Treatment will depend on an individual’s specific condition and symptoms. It is also important to stay connected to your medical team so that you can be made aware of any upcoming clinical trial opportunities.

Clinical care for rare diseases often involves a multidisciplinary team of medical, care and support professionals. Please note that the information provided here is as a guide and that RVA does not necessarily monitor or endorse specific clinics or health experts.

Healthcare professionals involved in the treatment of DMD may include general practitioners (GP), paediatricians, geneticists, neurologists, neuromuscular nurses, cardiologists, respiratory physicians, endocrinologists, physiotherapists, occupational therapists, orthotists, speech therapists, social workers, and dieticians.^1-3 The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.

Best Practice Guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies – Neuromuscular Disorders were established by 29 senior scientists from Europe, the USA, India and Australia, and published in 2010.

Development of clinical practice guidelines for allied health and nursing assessment and management of Duchenne muscular dystrophy was done through consultations with health professionals and consumer advocacy groups to provide evidence-based guidance in Australia and New Zealand; and published in 2021.

The following 3-part international DMD clinical care considerations is an update of the 2010 DMD care considerations:

• Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management
• Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management
• Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan

Adult North Star Network (ANSN): Consensus guideline for the standard of care of adults with Duchenne muscular dystrophy is aimed to be a framework to improve clinical services and multi-disciplinary care for adults with DMD in the UK; published in 2021

Individuals living with rare diseases may have complex medical issues and disabilities, which are not always visible. It is often useful to refer to their medical history as well as personal information such as a medical card, doctor’s letter, or if available, a rare disease passport, for relevant information.

Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan covers key issues related to the emergency care of patients with DMD, and is intended to be a useful guide for emergency medicine providers, primary care clinicians, and neuromuscular specialists; and a resource for patients, who can take this guide with them when they seek emergency care.

This care consideration is part of a three-part update of the 2010 DMD care considerations and was published in 2018 by a steering committee of experts from a wide range of disciplines.

The Australian Neuromuscular Disease Registry is an Australia-wide registry that collects information about individuals with certain neuromuscular conditions, including DMD. The registry collects important medical information from adult and child patients across the country to improve the understanding of neuromuscular disease and accelerate the development of new therapies.

There are specific considerations around participating in rare disease research, including clinical trials. It is important to be mindful of issues such as data privacy, research ethics, consent and differences in research regulations between Australia and other countries.

If you are interested in finding clinical trials for your condition, please visit the following websites; however, there may not be any clinical trials available:

• Australian Clinical Trials
• ClinicalTrials.gov

It is best to discuss your interest in any clinical trials with your medical team to determine suitability and eligibility.

Please note that RVA does not necessarily monitor or endorse each group/organisation’s operational governance and activities.

Australia Organisations:

Duchenne Australia
Website: https://www.duchenneaustralia.org/

Duchenne Australia strives for all Australians living with Duchenne and associated dystrophinopathies, to have access to evidence-based care, and the best possible quality of life, through advocacy for emerging therapies, research and clinical trials.

Save Our Sons Duchenne Foundation
Website: https://saveoursons.org.au/

Save Our Sons Duchenne Foundation’s vision is to find a cure for Duchenne and Becker muscular dystrophy whilst actively working to ensure enhanced quality of life (including quality of educational opportunities) for those young people and their families affected by this condition.

Please note that RVA does not monitor or endorse each group/organisation’s operational governance and activities. When engaging with a group, please consider the information on the RARE Portal’s Finding Helpful Peer and Community Supports page.

DMD varies between individuals, and each person’s experience is unique.

Please visit Save Our Sons Duchenne Foundation: Meet Our Heroes to read the personal stories of people living with DMD.

If you would like to share your personal story with RVA, please visit the Rare Voices Australia: Share Your Story page. RVA will consider your story for publishing on our website and inclusion on the RARE Portal.

Save Our Sons Duchenne Foundation: Resources page includes free, useful resources such as:

• Emergency information card for parents of boys and rare girls with Duchenne
• Information booklet for the newly diagnosed
• A guide for NDIS planning (Duchenne & Becker Muscular Dystrophy)
• Teachers Resource on Duchenne muscular dystrophy (DMD)

Duchenne Australia: Glossary provides definitions for medical terms relevant to DMD.

For information on available government and social services that provide support for individuals with a rare disease, please visit the National and State Services pages.

People living with a rare disease, including families and carers, often face unique challenges such as diagnostic delays, misdiagnoses, limited treatment options, and limited access to rare disease specialists and support. These challenges may impact people’s emotional wellbeing and quality of life. Many people find it helpful to seek mental health and wellbeing support to cope with ongoing stress and uncertainty. Connecting with people who have shared experiences through a support group may also be helpful. Information about relevant mental health and wellbeing support can be found at:

• Mental Health and Wellbeing Support for Australians Living with a Rare Disease
• The National and State Services pages underneath the ‘Mental Health’ sections listed

Further information on DMD can be found at:

• healthdirect: Duchenne muscular dystrophy
• The Loop – Your Neuromuscular Resource Hub: Duchenne Muscular Dystrophy (DMD)
• RARE Portal: Muscular Dystrophy (Group of Conditions)
• Genetic and Rare Diseases (GARD) Information Center: Duchenne muscular dystrophy
• National Organization for Rare Disorders (NORD): Duchenne Muscular Dystrophy
• TREAT-NMD: DMD Care (for Patients) – a comprehensive Duchenne guide for families based on the 2018 updated international care recommendations; available in various formats and languages

TREAT-NMD: DMD Care (for Clinicians) – includes single-page summary of best-practice care for DMD based on the existing care considerations

GeneReviews^®: Dystrophinopathies

Online Mendelian Inheritance in Man, OMIM^®: #310200 Muscular dystrophy, Duchenne type; DMD

Orphanet: Duchenne muscular dystrophy

Orphanet: Duchenne and Becker muscular dystrophy

Orphanet: Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers

This page has been co-developed by Rare Voices Australia (RVA)’s RARE Portal team in consultation with Save Our Sons Duchenne Foundation.

If you are aware of any additional information that may benefit stakeholders with an interest in this page, or if you notice any broken links or inaccurate information, please let us know via the Contribute page.