What causes Duchenne muscular dystrophy?

Duchenne muscular dystrophy is an X-linked disease that affects 1 in 3600-6000 live male births.1-4 Duchenne occurs as a result of mutations (mostly deletions) to the dystrophin gene. Mutations lead to a defect or absence of the protein dystrophin resulting in progressive muscle degeneration that leads to the loss of ambulation around 13 years of age.5

Children affected by Duchenne are typically diagnosed at 5 years of age. As the disease progresses, Duchenne patients lose their ability to walk and require a wheelchair. While it is rare for females to get Duchenne, they can be “carriers” and pass the mutation to their sons.1

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Signs and symptoms of Duchenne

Duchenne causes progressive weakness of all muscle, including skeletal and heart muscles. Early symptoms of Duchenne include1,5:

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Delayed
walking
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Gowers' sign
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Difficulty running or
climbing stairs

Although diagnosis typically happens around 5 years of age, the diagnosis may be suspected earlier due to delays in attaining developmental milestones, such as independent walking and language. The presence of Gowers’ sign in a male child should trigger a diagnostic investigation, especially if the child also has a waddling gait. Screening for increased creatine kinase concentrations, deletion or duplication testing, genetic sequencing, and biopsy may help detect dystrophin mutation.1,5

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Treating Duchenne with corticosteroids

1. Birnkrant DJ, Bushby K, Bann CM, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurol. 2018;17(3):251-267. 2. Mendell JR, Lloyd-Puryear M. Report of MDA muscle disease symposium on newborn screening for Duchenne muscular dystrophy. Muscle Nerve. 2013;48(1);21-26. 3. Van Ruiten HJ, Straub V, Bushby K. Improving recognition of Duchenne muscular dystrophy: a retrospective case note review. Arch Dis Child. 2014;99(12):1074-1077. 4. Goemans N, Kirschner J, Mercuri E. New perspectives in the management of Duchenne muscular dystrophy. European Neurological Review. 2014;9(1):78-82. 5. Bushby K, Finkel R, Birnkrant DJ, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol. 2010;9:77-93.