MUSCULAR DYSTROPHY 3
Thepatient is a 13-year-old boy with having difficulty getting up from asitting or lying position, and a history of frequent falls. Inaddition, he has large calf muscles and experiences trouble jumping.His mother also reported that he had poor grades.
Thesymptoms described by the boy indicate that his likely diagnosiswould be Duchenne’s muscular dystrophy. DMD is one of the mostcommon types of dystrophies that occur in childhood. Generally, thedisease manifests through an abnormal growth of muscles. Mutationsinterfere with protein production resulting in progressive loss ofmuscle mass and weakness. The proteins affected are needed for thegeneration of healthy muscles.
Inorder to conclusively diagnose the boy, family history will be soughtfrom his parents, given that DMD is inherited from carrier mothers. Additionally, a muscle biopsy will be carried out. This involvesobtaining a sample of the patient’s muscle tissue then testing it.In DMD, the biopsy will reveal whether dystrophin protein is abnormalor is missing (Yiu & Kornberg, 2015). Further DNA testing canalso analyze the nature of the related gene. Electromyography canalso be done to test the function of nerves and muscles. Blood enzymetests can also be done to look for creatine kinase. The presence ofthis enzyme indicates the deterioration of muscle fibers.
DMDdoes not have a cure as yet (Yiu & Kornberg, 2015).. However,pharmacological and physical therapy can be prescribed to manage thedisease’s trajectory. Treatment options that will be provided tothe boy include surgery, respiratory care, exercise, physical therapyand rehabilitative devices. Physical activity and therapy can helpdelay spine curvature. The choice depends on the manifestation of thedisease. The boy will also need counseling and therapy to cater forhis mental welfare as well.
Yiu,E.M., & Kornberg, A.J. (2015). Duchenne .Journal of Pediatric Child
Health.51 (8), 759 – 764