Duchennes Muscular Dystrophy Essay Example | Topics and Well Written Essays - 1250 words

Duchennes Muscular Dystrophy - Essay ExampleDuchenne powerful dystrophy or Pseudohypertrophic muscular dystrophy or Muscular dystrophy- Duchenne type is an X-linked neuromuscular disorder of vigor caused by an absence of the protein dystrophin. DMD was named in recognition of Dr. G. Duchenne de Boulogne from France around 150 years ago. He was the first person to attribute the signs and symptoms to a distinct familial disease entity. The gene responsible for it is DMD gene which is known to be the largest gene encoding the muscle protein, dystrophin the discovery of this gene was made around 20 years ago. Dystrophin provides structural stability to the dystroglycan complex (DGC) present on the cell membrane as it attaches with the inside(a) surface of the muscle fiber membrane. A mutation in the DMD gene residing in Xp21 region of the X-chromosome, hampers the production of dystrophin protein causing progressive loss of muscle lead and weakness (Partridge, 2007). It starts with t he lower limbs and gradually covers the entire musculature. DMD is rapidly progressing form of muscular dystrophy affecting male with a frequency of 1 in 3500 infants (Chamberlain, 2006). It is observed that the affected boys start manifesting symptoms of disease early in life usually before 5 years of age. They become powerless and are unable to pass and are restricted to wheel chair during their juvenile childhood or early teen years. Patients usually develop various complications related with respiratory deficiency and/ or cardiomyopathy as the disease progresses. Death occurs at by late teen age or in the early twenties (Chamberlin, 2006). It is inbred to provide appropriate treatment to overcome the basic genetic defect, either through medical, surgical, and rehabilitative approaches to make the patient comfortable (Sussman, 2002). SymptomsBefore the age of 6 years symptoms start becoming obvious, although they are visible in early infancy. There are three clinical stages an ambulatory stage, an early nonambulatory stage, and a late nonambulatory stage.Ambulatory Stage- This is between two and four years of age, at this stage, symptoms start appearing. Symptoms show weakness of forward head prosody and a inadequate strength to sit up persist beyond infancy leading to poor motor development, deficient memory skills and they gradually reduce their ability to cope with their peers both physically and mentally. Heel cord and elbow flexion contractures are also apparent. In rare cases, obstructive sleep apnea also develops along with facial soiling. The electrocardiogram readings show- Q waves leads in the lateral precordial while tall R and deep S waves leads in early precordial (Chamberlain, 2006). If glucocorticoids are not given therefore by the age of nine years, the child starts lacking ability to rise from supine to standing position and to climb stairs or arise from a chair and are able to ambulate with braces.Early Nonambulatory Stage- This s tage is between 10 and 12 years, the patient becomes dependent on wheel chair and flexion contractures at the ankle and elbow becomes more obvious. In this stage aquatic therapy may slow the progression. The dependency on wheel chair develops scoliosis and the patient postulate orthopedic consultation along with radiological evaluation. The average strength of the patient starts declining at the age of 9 years.Late Nonambulatory Sta