Genetic testing for Duchenne muscular dystrophy

Genetic testing is the only method for determining a patient’s specific mutation type.1,2 This is important because a specific genetic diagnosis may help identify medical management options and potential to enrol into clinical trials.2

Additionally, once a mutation is identified, female relatives can find out their carrier status. This is important for two main reasons:2

number 1

Female carriers can pass on Duchenne muscular dystrophy to their children

number 2

Female carriers need medical assessment and follow-up

A genetic diagnosis involves two types of tests

First-level testing1,3
  • The majority of mutations (~70%) are detected by multiplex ligation-dependent probe amplification (MLPA)
  • MLPA can detect both large deletions and large duplications in patients and carriers
Second-level testing1
  • If no mutation is found, gene sequencing should be performed
  • Only gene sequencing can definitely detect smaller mutation types. These mutations include point mutations (nonsense or missense), small deletions, and small duplications or insertions

How to accurately diagnose Duchenne muscular dystrophy1,2

Adapted from references 1, 4 and 5

Genetic testing is the only way to determine the specific mutation causing Duchenne muscular dystrophy and could help patients get on the right treatment pathway1,2

1. Birnkrant DJ, et al. Lancet Neurol. 2018;17:251–267 [Part 1].
2. Aartsma-Rus A, et al. J Med Genet. 2016;53:145–151.
3. Verma PK, et al. Indian J Hum Genet. 2012;18:91–94.
4. Aartsma-Rus A, et al. J Pediatr. 2019;2014:305–313.e14.
5. National Task Force for Early Identification of Childhood Neuromuscular Disorders. Child Muscle Weakness. 2019. Available at: [last accessed November 2020].

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