Children with neuromuscular disease experience progressive muscle deterioration and an ongoing decline in physical function.1
Signs and symptoms may begin in early infancy, but it can take time before a child is diagnosed.2,3
This could mean missing out on early interventions and support for the child and parents or caregivers.2,4
The earliest and most common sign of neuromuscular disease is muscle weakness, which manifests as delayed motor development.2,3 Delays in language, speech and cognition should also prompt suspicion that something may be wrong.2,6–8
Monitoring motor development can help to identify developmental delay earlier, speeding up the diagnostic process and access to the right care.6
The onset of symptoms occurs in childhood, typically around the age of 2.5 years,1 but can be as early as 2 months.10
Delayed motor milestones are the most noticeable signs in early childhood. Key symptoms can include:5
Learn more from Dr Bello on the importance of early diagnosis and key signs and symptoms to look out for in the video below.
Click here to visit our Resources section where you can watch Dr. Luca Bello describing the key steps in reaching a Duchenne diagnosis from an initial suspicion of the condition as well as Paediatric Neurologist Dr. Damjan Osredkar discussing the diagnosis and management of Duchenne.
Progressive muscular damage results in a loss of ambulation and wheelchair dependence9 before the teenage years.10
Ultimately, progressive muscle degeneration causes respiratory and cardiac failure, leading to early death.5
There is no cure for Duchenne muscular dystrophy. But medications and supportive care can help improve outcomes, slow the course of the disease and extend survival.2,5,11–13 That is why early detection is vital.
It also means:
Immediate intervention is critical to help delay disease progression and help preserve muscle function for as long as possible.
Click here for information on what to do if you suspect Duchenne.
What you need to know about the signs and symptoms of DuchenneLearn more
Considerations for screening and how to make a quality referralLearn more
How to confirm a diagnosis with genetic testingLearn more
How timely therapeutic strategies can help delay disease progression and improve clinical outcomesLearn more
This information is for EU Healthcare Professionals only and not intended for UK nor Ireland Healthcare Professionals. By clicking OK you are confirming that you are a Healthcare Professional based in the EU
If you are not a Healthcare Professional, visit Duchenne and You for more information on signs and symptoms and support following a Duchenne diagnosis.
Failure to reach certain age-appropriate developmental milestones – such as the ability to speak and walk14 – may indicate developmental delay.15
The American Academy of Pediatrics (AAP) recommend that all primary care providers evaluate age-appropriate developmental milestones throughout the first 5 years of life.16
A ‘red flags’ checklist has been developed to help you identify the early signs of neuromuscular disease.
This tool provides a comprehensive checklist to help identify early signs or symptoms of neuromuscular disease.
Other early signs and symptoms may include:4,5
Adapted from references 1–5.
References: 1. Noritz GH, et al. Pediatrics. 2013;131:e2016–e2027. 2. CDC developmental milestones. Available at: https://www.cdc.gov/ncbddd/actearly/milestones/index.html. [accessed April 2019].
3. Lurio JG, et al. Am Fam Physician. 2015;91:38–44. 4. Birnkrant DJ, et al. Lancet Neurol. 2018;17:251–267 [Part 1]. 5. Ciafaloni E, et al. J Pediatr. 2009;155:380–385.
The muscular dystrophies differ in age of onset, severity, pattern of inheritance, and the muscle groups and other organs affected.1
Click the icons for more information about each type of muscular dystrophy.
Duchenne is the most common and severe form of muscular dystrophy among children, and accounts for >50% of all cases. It primarily affects males.
Becker is less common and severe than Duchenne but presents with similar symptoms.
Myotonic is the most common adult form of muscular dystrophy.
Congenital muscular dystrophy appears at birth or by age 2.
Emery-Dreifuss primarily affects boys, with symptoms usually apparent by age 10.
FSHD refers to the areas affected – the face (facio), shoulders (scapulo) and upper arms (humeral). It typically affects adolescents.
Most often appears in adolescence or young adulthood. Affects both males and females.
Distal muscular dystrophy is less severe and progresses more slowly than other forms of muscular dystrophy. It typically appears at 40–60 years of age.
Oculopharyngeal muscular dystrophy occurs in both men and women, typically in a person's 40s or 50s. It can be mild or severe.
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