Abstract:
Duchenne Muscular Dystrophy (DMD) is a X-linked recessive condition in which a defective gene called dystrophin is inherited. Dystrophin is an essential protein for muscular strength and stability. DMD affects 1 out of 3600 males and the symptoms are more severe in males than in females. Symptoms of DMD include skeletal deformities, fatigue, learning and intellectual developmental delay, difficulty breathing, and heart disease. Diagnosing DMD is done through serum CPK, muscle biopsy, genetic testing, and electromyography to confirm inheritance of the gene and progression of disease. At this time, there is no cure for this devastating disease yet new treatment modalities are being created to support quality of life. Treatment options …show more content…
This gene is passed from mother to son and the symptoms present more severely in males than in females. This disease affects 1 in 3500 males. Furthermore, the dystrophin gene is necessary to produce the protein dystrophin which stabilizes muscle strength and stability. The role of dystrophin is crucial in stabilizing a dystrophin-associated protein complex (DAPC) which contributes to the structure of muscle. The absence of protein stabilization leads to fiber damage and membrane leakage. This results in muscle weakness and contributes to the characteristic presentation seen in individual’s affected about …show more content…
As toddlers, developmental milestones are delayed and boys are not able to sit up or walk properly. They demonstrate difficulty in getting up which is known as the characteristic Gower’s sign. Fatigue accompanies this disease due to the excessive effort put forth in day to day activities. As the disease progresses, muscular weakness becomes more apparent as children begin to participate in other activities that require muscular strength. Over time, the calf muscle begins to hypertrophy due to fat and connective tissue replacing the muscle. Individual’s with DMD present with a characteristic gait that involve solely walking on their toes. This gait appears due to the Achilles tendon becoming stiff after calf hypertrophy occurs. Along with physical developmental delays, children with DMD suffer from learning and memory developmental delays. These hinderances in development due to the lack of the protein dystrophin can cause many other systemic issues. One such issue is development of pulmonary and cardiac function. At a later stage of disease, a majority of patient’s are seen to develop dilated cardiomyopathy due to early diastolic failure and fibrosis. This progression can be delayed by proper medication and respiratory support. The patient’s also begin to experience difficulty in breathing due to the progressive cardiac
Duchenne Muscular Dystrophy (DMD) is a X-linked recessive condition in which a defective gene called dystrophin is inherited. Dystrophin is an essential protein for muscular strength and stability. DMD affects 1 out of 3600 males and the symptoms are more severe in males than in females. Symptoms of DMD include skeletal deformities, fatigue, learning and intellectual developmental delay, difficulty breathing, and heart disease. Diagnosing DMD is done through serum CPK, muscle biopsy, genetic testing, and electromyography to confirm inheritance of the gene and progression of disease. At this time, there is no cure for this devastating disease yet new treatment modalities are being created to support quality of life. Treatment options …show more content…
This gene is passed from mother to son and the symptoms present more severely in males than in females. This disease affects 1 in 3500 males. Furthermore, the dystrophin gene is necessary to produce the protein dystrophin which stabilizes muscle strength and stability. The role of dystrophin is crucial in stabilizing a dystrophin-associated protein complex (DAPC) which contributes to the structure of muscle. The absence of protein stabilization leads to fiber damage and membrane leakage. This results in muscle weakness and contributes to the characteristic presentation seen in individual’s affected about …show more content…
As toddlers, developmental milestones are delayed and boys are not able to sit up or walk properly. They demonstrate difficulty in getting up which is known as the characteristic Gower’s sign. Fatigue accompanies this disease due to the excessive effort put forth in day to day activities. As the disease progresses, muscular weakness becomes more apparent as children begin to participate in other activities that require muscular strength. Over time, the calf muscle begins to hypertrophy due to fat and connective tissue replacing the muscle. Individual’s with DMD present with a characteristic gait that involve solely walking on their toes. This gait appears due to the Achilles tendon becoming stiff after calf hypertrophy occurs. Along with physical developmental delays, children with DMD suffer from learning and memory developmental delays. These hinderances in development due to the lack of the protein dystrophin can cause many other systemic issues. One such issue is development of pulmonary and cardiac function. At a later stage of disease, a majority of patient’s are seen to develop dilated cardiomyopathy due to early diastolic failure and fibrosis. This progression can be delayed by proper medication and respiratory support. The patient’s also begin to experience difficulty in breathing due to the progressive cardiac