Carriers of Duchenne muscular dystrophy (DMD): symptoms & care

Approximately 10% of female carriers show some disease manifestations,1,2 which include:
muscle

Muscle weakness3-5

Cardiomyopathy3,4

Central nervous system manifestations4

Adapted from references 3-5

The 2018 Duchenne Care Considerations recommend performing cardiac assessment in all female carriers in early adulthood every 3–5 years.3 This should consist of an electrocardiogram and non-invasive imaging. Assessments should be more frequent in those who are symptomatic or imaging-positive.3

Diagnosis of DMD in children takes an average of 2 years from parental concern. Therefore, carrier women may have more children without realising that they carry a DMD mutation.6-8

Carriers may be at risk of Duchenne muscular dystrophy symptoms.3 Learn about the importance of carrier screening for Duchenne muscular dystrophy here.

1. Bushby K. et al. Lancet Neurol. 2010;77–93.
2. Florian A, et al. Eur Heart J Cardiovasc Imaging. 2016;17:326–333.
3. Birnkrant DJ, et al. Lancet Neurol. 2018;17:347–361 [Part 2].
4. Adachi K, et al. J Neurol Sci. 2018;386:74–80.
5. Giliberto F, et al. J Neurol Sci. 2014;336:36–41.
6. van Ruiten HJ, et al. Arch Dis Child. 2014,99:1074–1077.
7. Ciafaloni E, et al. J Pediatr. 2009;155:380–385.
8. Vry J, et al. J Neuromuscul Dis. 2016;3:517–527.

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