Dystrophy is a broad term used to describe a group of genetic disorders that lead to progressive muscle deterioration and weakness due to the lack of a certain protein (Deng & Li, 2015). The most common form of dystrophy is Duchenne muscular dystrophy (DMD), a genetic disorder caused by a mutation in the dystrophin gene that affects 1 in 3,500 male births (Deng & Li, 2015).
DMD is characterized by muscle wasting, weakness, and eventually cardiac and respiratory failure (Deng & Li, 2015). Symptoms typically begin during early childhood and gradually progress with age. Common symptoms include difficulties in standing, walking, and climbing stairs, with some patients requiring the use of wheelchairs (Kumar et al., 2018). As the disease progresses, patients may also experience an increase in muscle pain, fatigue, and respiratory problems (Kumar et al., 2018).
Diagnosis of DMD is typically done through genetic testing, which can detect the presence of the mutated dystrophin gene (Deng & Li, 2015). Treatment of DMD is mostly focused on slowing the progression of the disease, as there is no cure (Deng & Li, 2015). Treatment can include physical therapy, medications to manage muscle pain and weakness, and surgery to correct scoliosis or respiratory problems (Kumar et al., 2018). Additionally, there are a number of ongoing clinical trials exploring potential therapies for DMD, such as gene therapy and stem cell therapies (Kumar et al., 2018).
In conclusion, dystrophy is a group of genetic disorders that lead to progressive muscle deterioration and weakness. DMD is the most common form of dystrophy, caused by a mutation in the dystrophin gene. Diagnosis of DMD is typically done through genetic testing, and treatment can include physical therapy, medications, and surgery. Additionally, there are a number of ongoing clinical trials exploring potential therapies for DMD.
References
Deng, N., & Li, W. (2015). Molecular mechanism of Duchenne muscular dystrophy. Molecular Genetics and Metabolism, 116(2), 95-102.
Kumar, S., Jain, A., Aggarwal, A., & Jain, N. (2018). Duchenne muscular dystrophy: a comprehensive review. European Journal of Pediatrics, 177(3), 299-310.