Duchenne's Muscular Dystrophy - Essay Example

Duchenne’s Muscular Dystrophy Introduction: According to Wu, Kuban, Allred, Shapiro, and Darras, (2005), “Duchenne muscular dystrophy is an X-linkedrecessive degenerative neuromuscular disorder characterized by deficient dystrophin protein in muscle”. The rate of prevalence of Duchenne’s muscular dystrophy (DMD) is one in every thirty-five thousand males. DMD is generally identified by the age of five through its symptoms of delayed motor ability and weakness of the proximal muscles. The consequences of DMD are severe for the individual (Wu, Kuban, Allred, Shapiro & Darras, 2005).

Questions for the Professional:1. How has the definitive diagnosis of DMD been done? Through symptoms, muscle biopsy or DNA analysis? 2. Is there any possibility that the symptoms may be due to 3. Is it possible to have a mutation analysis done to meet the genetic counseling needs of the family?4. What is the degree of dystrophin deficiency?5. How severe is the condition of the child?6. What is the prognosis?7. What are the immediate needs of the child and the family support required? How will these expand over time?8. Which are the other professionals that need to be involved in the management of the condition in the child?9. Is there any possibility that the other two children could get affected by the same condition?10. What is the likely expenditure to be in meeting the care needs of the child now and over time?

Information for the Family:Overview:Genetic basis of the condition.Results in absence or severely reduced quantity of dystrophin, which causes the condition. Early symptoms include delayed motor milestones and weakness of the proximal muscles by the age of two or three Afflicts one in 35, 000 males (Wu, Kuban, Allred, Shapiro & Darras, 2005).Diagnosis:Definitive diagnosis through muscle biopsy or DNA analysis (Pagon, 2005). Prognosis:Initial symptoms of motor milestone delayed motor milestones and weakness of the proximal muscles, are followed by delayed language milestones (Language Skills Delayed in Muscular Dystrophy Patients, 2007).

Condition demonstrates relentless progression through weakness and wasting particularly at the proximal lower extremities. Further progression leads to contractures that limit functions, especially at the ankles and hips, necessitating the use of a wheel chair by the age of twelve.Scoliosis is commonly seen at this stage.Respiratory, cardiac and gastro-intestinal complications follow. Most patients die by the age of twenty as a result of complications from respiratory insufficiency (Tsao & Mendell, 1999).

Treatment:All current treatment is symptomatic (Dalakas, 2005). To prevent contractures exercises involving appropriate stretching of the heel cords, iliotibial bands, and hip flexors need to done on a regular basis. Should curvature extend between thirty-five and forty-five degrees by the age of twelve, surgery may be considered, but it is a major surgical process with significant surgical risk involved. (Tsao & Mendell, 1999).Steroid treatment using deflazacort is the usual drug regime as it slows the disease, but may cause complications at the later stage.

Creatinine supplementation is often provided, but there is no clear evidence of its use. (Dalakas, 2005).Use of Alendronate in boys treated with deflazacort may increase bone mineral density (Hawker, Ridout, Harris, Chase, Fielding, & Biggar, 2005). Gene replacement therapy is a possibility in the future, as animal studies have been completed and trials in humans are awaited (Tsao & Mendell, 1999).Steps taken to Obtain Information: The first step taken was to search the local libraries for books and journals for information on DMD.

The next step was to use the Internet to expand the search. The medical databases of Medscape, PubMed, Medline and BioMed were used for this purpose. Search terms included “duchenne’s muscular dystrophy”, “diagnosis of duchenne’s muscular dystrophy”, “pathophysiology of duchenne’s muscular dystrophy, and “treatment of duchenne’s muscular dystrophy”. List of Recommended Resources: The list of recommended resources is the literary references provided below.Literary ReferencesDalakas, C. M. (2005).

Diseases of Muscle and the Neuromuscular Junction. Retrieved October 4, 2007, from, ACP Medicine Web site: http://www.medscape.com/viewarticle/501291Hawker, G. A., Ridout, R., Harris, V. A., Chase, C. C., Fielding, L. J., & Biggar, W. D. (2005). Alendronate in the treatment of low bone mass in steroid-treated boys with Duchennes muscular dystrophy. Archives of physical medicine and rehabilitation. 86(2), 284-288.Language Skills Delayed in Muscular Dystrophy Patients. (2007). Retrieved October 4, 2007, from, REUTERS HEALTH INFORMATION Web site: http://www.medscape.com/viewarticle/557221Pagon, A. R. (2005).

Genetic Diagnosis and Counseling. Retrieved October 4, 2007, from, ACP Medicine Web site: http://www.medscape.com/viewarticle/508933Tsao, C., & Mendell, J. R. (1999). The Childhood Muscular Dystrophies: Making Order Out of Chaos. Seminars in Neurology, 19(1), 9-23.Wu, J. Y., Kuban, K. C. K., Allred, E., Shapiro, F., & Darras, B. T. (2005). Association of Duchenne Muscular Dystrophy With Autism Spectrum Disorder. Journal of Child Neurology, 20 (10), 790-795.