Rare Disease Highlight: Duchenne Muscular Dystrophy

By Rita Ejiofor

Duchenne Muscular Dystrophy (DMD) is a muscle disorder which causes muscle loss and weakness due to a mutation in the dystrophin gene that is responsible for keeping the muscle cells sturdy. This disease is named after the French neurologist, Guillaume Benjamin Amand Duchenne, who discovered the disease in the 1860’s ¹.  This disease predominantly occurs in males affecting approximately 1:50,000 in the US, making its patient population rare ². 70% of DMD cases are due to genetic mutations that are passed down through family generations. Therefore, most males affected receive a mutated copy of the X chromosome from their mother ¹. Symptoms of DMD include: muscle weakness, calf enlargement, scoliosis, breathing issues etc ³. There is currently no cure for DMD. The current standard of therapy is the use of corticosteroids which helps to improve the muscle membrane. However, corticosteroid have unwanted side effects such as weight gain, weakened immune system, behavioral changes, and excessive hair growth. Other therapy options include physical therapy or assistive devices which can only help with symptom management. Thus, patients have very limited options and more therapy is needed ⁴.

References

1. Diseases – DMD – Causes/Inheritance. (2020, April 7). Muscular Dystrophy Association. https://www.mda.org/disease/duchenne-muscular-dystrophy/causes-inheritance 
2. Yiu, E. M., & Kornberg, A. J. (2015). Duchenne muscular dystrophy. In Journal of Paediatrics and Child Health. https://doi.org/10.1111/jpc.12868 
3. Suthar, R., & Sankhyan, N. (2018). Duchenne Muscular Dystrophy: A Practice Update. In Indian Journal of Pediatrics. https://doi.org/10.1007/s12098-017-2397-y
4. Reinig, A. M., Mirzaei, S., & Berlau, D. J. (2017). Advances in the Treatment of Duchenne Muscular Dystrophy: New and Emerging Pharmacotherapies. In Pharmacotherapy. https://doi.org/10.1002/phar.1909

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