The Duchenne muscular dystrophy (DMD) journey: from symptom onset to management

From the recognition of symptoms to treatment and supportive care, there are multiple stages in the management of a patient with DMD.

In this video, Paediatric Neurologist Dr. Damjan Osredkar discusses his centre’s experience in the diagnosis and management of Duchenne. He also describes the benefits of a multidisciplinary care team and explains why it is important to have an individualised DMD care plan.

Click here to learn more about diagnosis and management of Duchenne muscular dystrophy

The importance of early diagnosis

While there is no cure for Duchenne muscular dystrophy, studies have shown that early diagnosis and care can help slow DMD progression and minimise the risks and complications of the disease.1-5

This means that patients may:1,2,5-8

stairs

Remain ambulatory for longer

lungs

Preserve their pulmonary and cardiac function longer

Have a better quality of life

Live Longer

It also means:

  • Parents of patients can have earlier access to genetic counselling, which can assist with family planning2
  • It may be possible to enroll the child in research-based registries and clinical trials of investigational treatments2

Your role in detecting DMD has never been more important

Prompt intervention is critical to help delay disease progression and help preserve muscle function for as long as possible.

Early diagnosis and care can help slow Duchenne muscular dystrophy progression and minimize the risks of complications of the disease.
If you see signs and symptoms of Duchenne muscular dystrophy, order a creatine kinase (CK) test – click here to learn more

Duchenne muscular dystropy (DMD): What is it and how is it managed?

From the recognition of symptoms to management and supportive care, there are multiple stages in the management of a patient with DMD.

In this video, Prof. Ros Quinlivan from the National Hospital for Neurology and Neurosurgery in London, UK describes the early key signs and symptoms that would trigger a suspicion and further testing. She also describes the progressive nature of the disease and discusses her centre’s experience in the management of patients with DMD.

This video is based on professional and expert opinion of Prof. Ros Quinlivan.

Expert insights

The following materials are intended for healthcare professionals. These materials have been developed and funded by PTC Therapeutics.

Signs and symptoms of Duchenne muscular dystrophy (DMD)

Physician Neurologist Dr. Luca Bello explains the importance of early diagnosis and key signs and symptoms to look out for in DMD.

Suspicion of Duchenne muscular dystrophy (DMD)

Dr. Luca Bello describes the key steps in reaching a DMD diagnosis from an initial suspicion of the condition.

Duchenne muscular dystrophy (DMD): From signs and symptoms to management

Paediatric Neurologist Dr. Damjan Osredkar discusses his centre’s experience in the diagnosis and management of DMD. He also describes the benefits of a multidisciplinary care team and explains why it is important to have an individualised DMD care plan.

Duchenne muscular dystrophy (DMD): What is it and how is it managed?

Prof. Ros Quinlivan from the National Hospital for Neurology and Neurosurgery in London, UK describes the early key signs and symptoms that would trigger a suspicion and further testing.

Read more on how you can help aid recognition and diagnosis of Duchenne muscular dystrophy

Pharmacological therapy: Learn more about treatment with glucocorticoids

Along with physiotherapy, treatment with glucocorticoids remains a mainstay of Duchenne muscular dystrophy treatment and it is recommended that individuals should continue taking glucocorticoids after loss of ambulation.1

Recent studies have also demonstrated the benefits of early glucocorticoid treatment, before significant physical decline.1-3

The long-term effects of glucocorticoid therapy have been shown to include*:

muscle

Preserved muscle strength and motor function4,5

stairs

Delayed loss of ambulation1,4

lungs

Preserved pulmonary function1,4,5

spine

Avoidance of scoliosis surgery1,4,5

Improved survival4

*compared to untreated patients

The 2018 International Care Guidelines recommends following an initial consultation with the family, a discussion regarding side effects and a nutritional consultation should occur before any glucocorticoid treatment is initiated.1 Well documented side effects of long-term corticosteroid use can include; weight gain and obesity, acne and warts, cushingoid features, growth retardation and delayed puberty, cataracts, immune/adrenal suppression, glucose intolerance, hypertension, adverse behavioural changes, gastro-oesophageal reflux, peptic ulcer, gastritis, osteoporosis and myoglobinuria.6

Click here for the International Duchenne Care Considerations summaries.

Pharmacological treatments for the management of Duchenne muscular dystrophy (DMD)

There are different approaches to pharmacological management:

muscle

Glucocorticoids, a mainstay therapy, for the treatment of muscle strength and function1,2

Angiotensin-converting enzyme (ACE) inhibitors or angiotensin receptor blockers (ARBs) for the treatment of heart disease3

spine

Bisphosphonate therapy for the treatment of osteoporosis3

Hormone replacement therapy for the treatment of impaired growth, delayed puberty, and adrenal insufficiency1

Additional therapeutic strategies:*4

DNA helix

Mutation-specific therapies or gene replacement therapies aiming to restore dystrophin production

DNA helix

Muscle membrane stabilisation and/or upregulation of compensatory proteins which are structurally and functionally similar to dystrophin

DNA helix

Reduction of the inflammatory cascade and/or enhancement of muscle regeneration

*Some of these treatments have been approved by regulators while others are near, or in regulatory review or in clinical trials and might become available in the future1,4

Duchenne International Care Considerations highlight that physiotherapy and glucocorticoids remain the mainstays of treatment for Duchenne muscular dystrophy – click here to learn more.

The Duchenne muscular dystrophy (DMD) multidisciplinary care team

DMD care can be complex. It requires multiple interventions, including neuromuscular, respiratory, cardiac, orthopaedic, endocrine and rehabilitative. These will evolve over the course of the disease.1

As such, international care guidelines for DMD recommend a coordinated, multidisciplinary approach to care.1

By assembling a group of providers in a multidisciplinary team, the patient can benefit from:1

  • Integrated skills and knowledge from multiple disciplines
  • A coordinated and comprehensive treatment plan

Adapted from Birnkrant 2018 [Part 1] and Muscular Dystrophy UK1,2

Who are the key specialists in the DMD multidisciplinary care team?

muscle

Neuromuscular management1

KEY ROLE: to optimise the maintenance of muscle strength and function, lead the multidisciplinary clinic, and act as first point of contact to families

A neuromuscular specialist:

  • Leads, administers and coordinates the DMD multidisciplinary clinic
  • Characterises the patient’s disease trajectory and defines the treatment plan 
  • Provides patient and family support and education

Initiates and manages use of pharmaceutical interventions

Rehabilitation management1

KEY ROLE: to provide physical, occupational, and speech and language therapy

Professionals including physical therapists, occupational therapists, speech-language pathologists, orthotists and medical equipment providers:

  • Help prevent or manage muscle/joint contracture, deformity, falls and fractures 
  • Help prevent or manage pain
  • Promote exercise and activity
  • Provide orthoses, equipment and learning support

Cardiac management1

KEY ROLE: to evaluate cardiac function and manage cardiac complications

A cardiologist:

  • Monitors cardiac function and conducts cardiac assessments (in both DMD patients and female carriers)
  • Initiates and manages cardiac pharmacological therapies
  • Uses heart failure interventions with deterioration of function

Respiratory management1,6

KEY ROLE: to evaluate respiratory function and manage respiratory complications

Professionals including physicians and respiratory or physical therapists:

  • Monitor respiratory muscle function 
  • Manage lung volume recruitment, assisted coughing, nocturnally assisted ventilation and subsequent daytime ventilation
  • Manage immunisation schedules

Orthopaedic & surgical management1,6

KEY ROLE: to manage joint contractures and scoliosis

Professionals including physical therapists, occupational therapists, rehabilitation physicians, neurologists, orthopaedic physicians and social workers:

  • Provide surgical interventions to manage contractures and scoliosis
  • Provide physical therapy before and after surgery
spine

Bone health management1,6

KEY ROLE: to diagnose and treat osteoporosis

A bone heath expert:

  • Identifies early indications of bone fragility
  • Initiates and manages intravenous bisphosphonate therapy to treat osteoporosis

Psychosocial management1,3

KEY ROLE: to manage learning, emotional and behavioural disorders

Professionals including mental health clinicians, occupational therapists and physical therapists:

  • Assess mental health and educational needs
  • Provide neuropsychological evaluation/interventions for learning, emotional and behavioural problems

Specialist nursing2

KEY ROLE: to provide practical and emotional support for families affected by DMD

Specialist nurses:

  • Provide advice and information to patients and families about DMD
  • Support a patient’s physical and emotional wellbeing

Genetic counselling4,5

KEY ROLE: to manage genetic testing and explain what the results mean for families

A genetic counsellor:

  • Provides education about DMD
  • Coordinates and explains genetic testing
  • Provides emotional counselling
  • Discusses family planning options

Gastrointestinal and nutritional management1

KEY ROLE: to promote a healthy diet and weight, and manage any gastrointestinal problems

A dietitian nutritionist:

  • Monitors growth and weight to prevent undernutrition, malnutrition or obesity
  • Promotes a healthy, balanced diet
  • A gastroenterologist:Manages constipation, gastroesophageal reflux, gastrointestinal motility concerns and gastrostomy tube placement

Regional care services2,7

KEY ROLE: to provide practical and emotional support for families affected by DMD

Regional neuromuscular care advisors:

  • Help support patients in school and work environment
  • Assist in planning for major housing adaptations and equipment resources
  • Support the transition from child to adult medical care
  • Advise patients on disability benefit assessments
  • Educate other healthcare professionals about DMD

Endocrine management1

KEY ROLE: to manage endocrine complications of DMD and initiate hormone replacement therapy

An endocrinologist:

  • Manages hormone deficiencies and hormone replacement therapy in the case of impaired growth or delayed puberty onset
  • Educates families on the risks of adrenal crisis following glucocorticoid termination

Please note that the information in this table is intended to provide an overview only and is not exhaustive information. Please refer to the international care guidelines and any local guidelines for more information.

International care guidelines for Duchenne muscular dystrophy recommend a coordinated, multidisciplinary approach to care.1 Click here to learn more.

Working together to improve the lives of patients and families

It is possible to help improve the quality of life and life expectancy of individuals with Duchenne muscular dystrophy.1,2 With the right care and access to adequate therapeutic strategies, healthcare teams have been able to:1,3
  • Help delay loss of ambulation
  • Reduce disease complications
  • Improve survival

For your patient, this can mean leading a fulfilling, independent life into adulthood.

These focused, two-page summaries provide you with a digestible overview of the 2018 International Duchenne Care Considerations.

Click on the summaries to view.

Diagnosis and management of Duchenne muscular dystrophy – Part 1
Diagnosis and management of Duchenne muscular dystrophy – Part 2
Diagnosis and management of Duchenne muscular dystrophy – Part 3

Studies have shown that early diagnosis and care can help slow Duchenne muscular dystrophy progression and minimise the risks and complications of the disease.1,2 Click here to find out how you can help drive a successful diagnostic journey.

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