Signs and symptoms at a glance

What are the early signs and symptoms of DMD?

Watch the Duchenne muscular dystrophy — Signs and symptoms animation to find out about red flag signs and characteristics of Duchenne muscular dystrophy.

Childhood developmental milestone checklist

Recognising Duchenne muscular dystrophy signs and symptoms early is important as once muscle function is lost, it cannot be restored.1—3

Carefully monitoring baby and childhood developmental milestones can help to identify weakness earlier, allowing for early testing and diagnosis, both of which are critical to gaining access to the right treatments and services.1,4—6

The childhood developmental milestones checklist provides a summary of key motor and non-motor developmental milestones that may be missed in a child presenting with a neuromuscular disorder and children with Duchenne muscular dystrophy.

Download a copy of the developmental milestone checklist

The importance of early diagnosis

While there is no cure for DMD, studies have shown that early diagnosis and care can help slow DMD progression, and minimise the risks and complications of the disease.1,4,15—17

Prompt intervention is critical to help delay disease progression and help preserve muscle function for as long as possible, meaning that patients may:1,4,17—20

  • Remain ambulatory for longer
  • Preserve their pulmonary and cardiac function longer
  • Have a better quality-of-life
  • Live longer

Recognising DMD symptoms early also means that parents of patients can have earlier access to genetic counselling, which can assist with family planning.4

Early diagnosis may also provide the opportunity for the child to be enrolled in research-based registries and clinical trials of investigational treatments.14

Carriers of DMD: symptoms and care

Female carriers may be at risk of DMD symptoms.15,21,22

Approximately 10% of female carriers show some disease manifestations, including:15,21—24

  • Muscle weakness
  • Cardiomyopathy
  • Central nervous system manifestations

The 2018 Duchenne Care Considerations recommend performing cardiac assessment (including an electrocardiogram and non-invasive imaging) every 3—5 years, in all female carriers in early adulthood.15 Assessments should be more frequent in those who are symptomatic or imaging-positive.15

As diagnosis of DMD in children takes an average of 2 years, from parental concern, carrier women may have more children without realising that they carry a DMD mutation.4,10,25

Learn more about Genetic counselling and Carrier screening for DMD

The symptoms of DMD in depth

Recognising red flag signs and symptoms in DMD

Key motor and non-motor developmental milestones may be missed in a child presenting with a neuromuscular disorder and children with DMD.1 Use the checklist below to support assessment of your paediatric patients and identify missed milestones that might indicate the need to carry out a creatine kinase (CK) test.1,6

Learn more about CK testing

  • http://icon%20of%20a%20baby%200-6%20months%20old
    Developmental norms6

    Pull to sit

    • 50% by 3.5 months
    • 75% by 4 months
    • 90% by 6.5 months
    DMD red flag signs and symptoms

    No head control at 2 months7,8

    • At 2 months, infant should lift head and chest in prone position7
    • Evaluate pull-to-sit with attention to head lag; if a child has head lag at 4 months, evaluate other age-appropriate motor milestones (e.g., rolling over) and re-evaluate in one month. If child is still not age-appropriate, CK test and referral are recommended5,6

    Not making sounds at 4 months8

    • At 4 months, most babies have begun to babble and copy sounds they hear

    Not reaching or grasping by 6 months6–8

    • At 6 months, most babies show curiosity about things around them and try to grab things that are out of reach; they have usually begun to pass things from one hand to the other at this stage

    Not rolling over by 6 months6–8

    • At 4 months, most infants are able to roll over prone to supine and at 6 months roll over supine to prone7
    Other signs and symptoms

    Elevated serum CK or transaminases12,13

    • Elevated serum CK, alanine transaminase and aspartate transaminase should be considered typical indicators of DMD and should require a high index of suspicion from physicians14

    Cognitive delay1

    • Cognitive deficits can be indicators of DMD but are not always associated with the disease14
    • The location of the DMD gene mutation has also been shown to correlate with the severity of cognitive impairment, with patients with point mutations exhibiting a higher degree of cognitive impairment than those with deletions or duplications14

    Calf hypertrophy1,14

    • Should be considered a typical indicator of DMD14

    Abnormal gait1

    • One of the most commonly observed early signs and symptoms in DMD1

    Frequent falls1,14

    • Frequent falling or clumsiness are one of the most commonly observed early signs and symptoms and should be considered typical indicators of DMD1,14
    REMEMBER – EARLY DIAGNOSIS MAKES A DIFFERENCE

    Timely and accurate diagnosis can enable the patient and family to receive the care and support they need, and early intervention may improve patient outcomes1,4,5,26

  • http://icon%20of%20a%20toddler%206-18%20months%20old
    Developmental norms6

    Sitting without support

    • 50% by 5.9 months
    • 75% by 6.7 months
    • 90% by 7.5 months

    Getting into sitting position

    • 50% by 8.5 months
    • 75% by 9.5 months
    • 90% by 10 months

    Walking alone

    • 50% by 12 months
    • 75% by 13.1 months
    • 90% by 14.4 months
    DMD red flag signs and symptoms

    Not sitting independently at 9 months5,8

    • At 9 months, infants should sit well without support
    • Assess ability to achieve and maintain a sitting position: if the child is not sitting independently by 7 months or able to get into sitting position by 9 months, CK should be measured5,6

    Not crawling by 9–15 months8,9

    Not speaking first words by 12 months8

    • By 12 months, most infants are able to say simple words such as “mama” and “dada” and try to repeat words said by their caregiver8

    Difficulty rising to stand by 18 months6–8

    • Watch for independent rise from floor from a supine position after child is able to walk well without assistance. Watch to see if child rises by putting hands on knees or thighs, or cannot rise without pulling up6

    Not walking well by 16–18 months1,5,8

    • At 18 months, the toddler should sit, stand, and walk independently7
    • If the child is not walking well at 18 months or has any regression, CK should be measured and the child referred to a paediatric neurologist5
    Other signs and symptoms

    Elevated serum CK or transaminases12,13

    • Elevated serum CK, alanine transaminase and aspartate transaminase should be considered typical indicators of DMD and should require a high index of suspicion from physicians14

    Cognitive delay1

    • Cognitive deficits can be indicators of DMD but are not always associated with the disease14
    • The location of the DMD gene mutation also has been shown to correlate with the severity of cognitive impairment, with patients with point mutations exhibiting a higher degree of cognitive impairment than those with deletions or duplications14

    Calf hypertrophy1,14

    • Should be considered a typical indicator of DMD14

    Abnormal gait1

    • One of the most commonly observed early signs and symptoms in DMD1

    Frequent falls1,14

    • Frequent falling or clumsiness are one of the most commonly observed early signs and symptoms and should be considered typical indicators of DMD1,14
    REMEMBER – EARLY DIAGNOSIS MAKES A DIFFERENCE

    Timely and accurate diagnosis can enable the patient and family to receive the care and support they need, and early intervention may improve patient outcomes1,4,5,26

  • http://icon%20of%20a%20child%202-3%20years%20old
    Developmental norms6

    Running

    • 50% by 16 months
    • 75% by 18.5 months
    • 90% by 21 months
    DMD red flag signs and symptoms

    Gowers’ sign from approximately 2 years old1
    Child showing Gowers' sign on rising from floor to standing

    Not walking smoothly at 2 years old (tip-toe walking)11

    Not jumping at 2 years old7

    Difficulty running or climbing at 3 years old7,8

    • Particularly note the quality of running, especially if there are other motor concerns6

    Not speaking in sentences at 3 years old8

    • By 3 years old, most children are able to name most familiar things, say their first name, age, and sex, and words like “I,” “me,” “we,” and “you”, talk well enough for strangers to understand most of the time, and carry on a conversation using 2 to 3 sentences
    Other signs and symptoms

    Elevated serum CK or transaminases12,13

    • Elevated serum CK, alanine transaminase and aspartate transaminase should be considered typical indicators of DMD and should require a high index of suspicion from physicians14

    Cognitive delay1

    • Cognitive deficits can be indicators of DMD but are not always associated with the disease14
    • The location of the DMD gene mutation also has been shown to correlate with the severity of cognitive impairment, with patients with point mutations exhibiting a higher degree of cognitive impairment than those with deletions or duplications14

    Calf hypertrophy1,14

    • Should be considered a typical indicator of DMD14
    • The difference in calf muscles of a healthy boy versus a boy with DMD:Calf muscles of a healthy boy versus a boy with DMD

    Abnormal gait1

    • One of the most commonly observed early signs and symptoms in DMD1

    Frequent falls1,14

    • Frequent falling or clumsiness are one of the most commonly observed early signs and symptoms and should be considered typical indicators of DMD1,14
    REMEMBER – EARLY DIAGNOSIS MAKES A DIFFERENCE

    Timely and accurate diagnosis can enable the patient and family to receive the care and support they need, and early intervention may improve patient outcomes1,4,5,26

     

Patient experience: Early signs and symptoms of DMD

Discover how Finn and his family navigated the journey from initial symptoms to a diagnosis of DMD.

Signs and symptoms of DMD Play icon

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References

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  6. National Task Force for Early Identification of Childhood Neuromuscular Disorders. Guide for primary care providers. Available at: https://childmuscleweakness.org/wp-content/uploads/2019/05/PrimaryCareProviderPacket.pdf [Accessed November 2022].
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GL-DMD-0710 | October 2023