Challenges to diagnosing Duchenne

Because Duchenne is rare,1 healthcare professionals may encounter few cases, if any, during their careers. The rarity of the disease combined with the non-specific early symptoms means diagnosis can be a challenge and may result in diagnostic delay.2-4

  • Average delay in diagnosis (from first symptoms) ranges from 1.3 to ~2.5 years2,4,5
  • Average age at diagnosis is between 4.5 and 4.11 years4

Taking appropriate action when concerns first arise may prevent years of uncertainty and stress for families whilst waiting for a diagnosis.3,6–8

Diagnosing Duchenne: Case study of an 8-year-old boy

Delayed diagnosis of Duchenne muscular dystrophy (DMD) in an 8-year-old boy presenting with speech and language delay
The following case study is based on the case report published in Essex C & Roper H. BMJ. 2000;323:37–38 but the images are for illustrative purposes only.9

challenges

16 monthsInitial presentation
T was brought to his GP

T was brought to his GP

T was brought to his GP by his mother because he was not able to speak or even babble at 16 months old. His mother also reported that T often walked on his toes when he began to walk at 13 months.​
What would you do?
Developmental delay
should trigger a creatine kinase (CK) test​
2 yearsFirst referral
At 2 years old, T underwent

At 2 years old, T underwent

At 2 years old, T underwent a multidisciplinary assessment at a child development centre and was diagnosed with language delay and learning difficulties. He was later provided special education and support services at primary school.

What would you do?
Developmental delay
should trigger a CK test

5 yearsConcerns about motor symptoms
At 5 years, T’s teacher reported concerns about his motor skills.

At 5 years, T’s teacher reported concerns about his motor skills.

At 5 years, T’s teacher reported concerns about his motor skills.

What would you do?
Motor function delay
should trigger a CK test

5.3 yearsSecond referral
At 5 years and 4 months

At 5 years and 4 months

At 5 years and 4 months, T was referred to a paediatric neurologist for further assessment.

Physical examination revealed calf hypertrophy, a waddling gait and use of Gowers’ manoeuvre to get up from the floor.

What would you do?
Calf hypertrophy, abnormal gait or Gowers’ manoeuvre should trigger a CK test​

Laboratory tests
Laboratory tests were ordered

Laboratory tests were ordered

Laboratory tests were ordered. T’s CK concentration levels were >10,000 U/L, well above normal levels (normal level ≤250 U/L).

What would you do?
All patients with elevated CK levels should be referred to a neuromuscular specialist

Genetic tests
Genetic testing identified a deletion

Genetic testing identified a deletion

Genetic testing identified a deletion mutation in the dystrophin gene that included exons 3–8.

What would you do?
Genetic testing should be used to determine the specific mutation causing DMD

Diagnosis
T was diagnosed with DMD around 4 years

T was diagnosed with DMD around 4 years

T was diagnosed with DMD around 4 years after he first presented with symptoms, at the age of 5 years and 4 months.

The 4-year delay between onset of symptoms and time of definitive diagnosis for T meant he wasn't receiving optimal management for his DMD during this time. At the age of 8 years 7 months, he could walk only a few metres indoors.

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

How you can help? If you see signs and symptoms of DMD, order a CK test.

Click here to check the red flag signs and symptoms. If you suspect DMD, perform a CK test.

1. Goemans N, et al. Eur Neurol Rev. 2014;9:78–82.
2. Ciafaloni E, et al. J Pediatr. 2009;155:380–385.
3. Lurio JG, et al. Am Fam Physician. 2015;91:38–44.
4. van Ruiten HJ, et al. Arch Dis Child. 2014;99:1074–1077.
5. Vry J, et al. J Neuromuscul Dis. 2016;3:517–527.
6. National Task Force for Early Identification of Childhood Neuromuscular Disorders. Child Muscle Weakness. 2019. Available at: childmuscleweakness.org [Accessed June 2021].
7. Cyrus A, et al. PLoS Curr. 2012:e4f99c5654147a.
8. McDonald CM, Fowler WM. Phys Med Rehabil Clin N Am. 2012;23:475–493.
9. Essex C, Roper H. BMJ. 2001;323:37–38.

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