What are the early signs and symptoms of Duchenne muscular dystrophy?

Access our interactive guide to early diagnosis and the red flag signs and symptoms to look out for.

Early and accurate diagnosis of DMD is important1–3

DMD is a progressive disease presenting early in childhood that needs an early and accurate diagnosis1–3

  • Early and accurate diagnosis of DMD is critical because once muscle function is lost, it cannot be restored4–7
  • Timely and accurate diagnosis can enable the patient and family to receive the care and support they need7–9
  • Ensures early access to treatment, counselling and appropriate screening for possible complications8
  • Early treatment may give improved long-term patient outcomes8

YOU can recognise the red flag signs and symptoms of DMD

DMD usually presents at 2 to 5 years of age, but signs of weakness may be evident earlier3–5

  • Gowers’ maneuver, characterised by an inability to rise from the floor without pulling or pushing up with the arms, is a classic symptom of DMD1,10–12
  • However, this symptom would not trigger concerns until the child is 2–3 years old13
  • There are earlier key motor and non-motor developmental milestones that may be missed in a child presenting with a neuromuscular disorder and children with DMD, for example, difficulty rising to stand and not walking well by 16–18 months7,11,12,14

Recognising red flag signs and symptoms in DMD

Key motor and non-motor developmental milestones that may be missed in a child presenting with a neuromuscular disorder and children with DMD

  • A CK test should be carried out in patients with developmental delay12
  • Use the checklist below to support assessment of your paediatric patients and identify missed milestones that might indicate the need to carry out a CK test

DMD red flag signs and
symptoms checklist

Select age at health check

Developmental norms12

  • 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 months1,14

  • At 2 months, infant should lift head and chest in prone position1
  • 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 recommended11,12

Not making sounds at 4 months14

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

Not reaching or grasping by 6 months1,12,14

  • 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 months1,12,14

  • At 4 months, most infants are able to roll over prone to supine and at 6 months roll over supine to prone1

Elevated serum CK or transaminases16,17

  • Elevated serum CK, alanine transaminase and aspartate transaminase should be considered typical indicators of DMD and should require a high index of suspicion from physicians10

Cognitive delay7

  • Cognitive deficits can be indicators of DMD but are not always associated with the disease10
  • 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 duplications10

Calf hypertrophy7,10

  • Should be considered a typical indicator of DMD10

Abnormal gait7

  • One of the most commonly observed early signs and symptoms in DMD7

Frequent falls7,10

  • Frequent falling or clumsiness are one of the most commonly observed early signs and symptoms and should be considered typical indicators of DMD7,10

Developmental norms12

  • 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 months11,14

  • 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 measured11,12

Not crawling by 9–15 months1,14,15

Not speaking first words by 12 months14

  • By 12 months, most infants are able to say simple words such as “mama” and “dada” and try to repeat words said by their caregiver14

Difficulty rising to stand by 18 months1,12,14

  • 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 up14

Not walking well by 16–18 months7,11,14

  • At 18 months, the toddler should sit, stand, and walk independently1
  • 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 neurologist11

Elevated serum CK or transaminases16,17

  • Elevated serum CK, alanine transaminase and aspartate transaminase should be considered typical indicators of DMD and should require a high index of suspicion from physicians10

Cognitive delay7

  • Cognitive deficits can be indicators of DMD but are not always associated with the disease10
  • 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 duplications10

Calf hypertrophy7,10

  • Should be considered a typical indicator of DMD10

Abnormal gait7

  • One of the most commonly observed early signs and symptoms in DMD7

Frequent falls7,10

  • Frequent falling or clumsiness are one of the most commonly observed early signs and symptoms and should be considered typical indicators of DMD7,10

Developmental norms12

  • 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 old13

Not walking smoothly at 2 years old (tip-toe walking)13

Not jumping at 2 years old1

Difficulty running or climbing at 3 years old1,14

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

Not speaking in sentences at 3 years old14

  • 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

Elevated serum CK or transaminases16,17

  • Elevated serum CK, alanine transaminase and aspartate transaminase should be considered typical indicators of DMD and should require a high index of suspicion from physicians10

Cognitive delay7

  • Cognitive deficits can be indicators of DMD but are not always associated with the disease10
  • 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 duplications10

Calf hypertrophy7,10

  • Should be considered a typical indicator of DMD10
  • The difference in calf muscles of a healthy boy versus a boy with DMD:
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Abnormal gait7

  • One of the most commonly observed early signs and symptoms in DMD7

Frequent falls7,10

  • Frequent falling or clumsiness are one of the most commonly observed early signs and symptoms and should be considered typical indicators of DMD7,10

Developmental delay should trigger a creatine kinase (CK) test7,14

  • Children with developmental delays or other signs of DMD should have a CK test7,11–14
  • Patients with elevated CK levels or missed developmental milestones should be referred to a neuromuscular specialist7,12
  • If your patient has a positive family history with suspicion of abnormal muscle function, developmental delay, such as difficulty rising to stand, or not walking well by 18 months and/or unexplained increases in transaminases, perform a CK test

Positive family history with suspicion of abnormal muscle function7

Developmental delay, such as difficulty rising to stand, or not by walking well by 18 months7,11,13,14

Unexplained increases in transaminases7

PERFORM A CK TEST

Elevated CK* (>250 U/L)

Promptly refer to a neuromuscular specialist or geneticist7,11,12

Normal CK*

Promptly refer to a neuromuscular specialist or geneticist7,11,12

Patients with missed motor milestones should be referred to a neuromuscular specialist11

Normal or mildly elevated CK levels do not rule out neuromuscular disease

Discover more about CK levels and CK testing

*The normal CK range is generally up to 250 U/L. Absolute values may differ between laboratories.12

GL-DMD-0358 | April 2022

Developmental delay should trigger a creatine kinase (CK) test2,3

1. Noritz GH, et al. Pediatrics. 2013;131:e2016–e2027.
2. National Task Force for Early Identification of Childhood Neuromuscular Disorders. Child Muscle Weakness. 2019. Available at: https://childmuscleweakness.org [Accessed March 2022].
3. Ciafaloni E, et al. J Pediatr. 2009;155:380–385.
4. Humbertclaude V, et al. Eur J Paediatr Neurol. 2012;16:149–160.
5. Blake DJ, et al. Physiol Rev. 2002;82:291–329.
6. Laing NG, et al. Clin Biochem Rev. 2011;32:129–134.
7. Birnkrant DJ, et al. Lancet Neurol. 2018;17:251–267
8. van Ruiten HJ, et al. Arch Dis Child. 2014;99:1074–1077.
9. McDonald CM, Fowler WM. Phys Med Rehabil Clin N Am. 2012;23:475–493.
10. Aartsma-Rus A, et al. J Pediatr. 2019;2014:305–313.e14.
11. Lurio JG, et al. Am Fam Physician. 2015;91:38–44.
12. 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 March 2022].
13. Parsons EP, et al. Eur J Paediatr Neurol. 2004;8:145–153.
14. Centers for Disease Control and Prevention. Developmental milestones. Available at: https://www.cdc.gov/ncbddd/actearly/pdf/checklists/all_checklists.pdf [Accessed March 2022].
15. van Dommelen P, et al. Dev Med Child Neurol. 2020; doi: 10.1111/dmcn.14623.
16. Ardıçlı D, et al. Neuropediatrics. 2019;50:41–45.
17. Counterman KJ, et al. Muscle Nerve. 2020;61:36–43.

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