Duchene Muscular Dystrophy

Duchene Muscular Dystrophy

Introduction

Duchene muscular dystrophy (DMD) is a type of muscular dystrophy or disorder that is quick in terms of worsening and deterioration of muscles. The main cause behind it is occurrence of a defective gene know as dystrophin which is a protein in the muscles and mostly occurs in people without any known or previous family history with regards to this condition (A.D.A.M., 2013). It has been mostly evident to affect boys due the way it's inherited or in other words due to its genotype. They are basically the sons of those females who are the basic carriers of this disease. They have 50 percent chances of developing the disease while daughters of such females have around 50 percent chances of becoming another source of carrying the defective gene (Hamilton Health Sciences, 2008, pp. 1). DMD occurs in around 1 in every 3600 male infants and as it is an inherited disease (Bushby etal, 2009, pp. 1). One of the major risks involved in this type of disease is having a family history of DMD.

Discussion

The main symptom of this disease is that children are unable to walk in their early teens while the average age by which they become unable to walk and lose their ability to walk on an independent basis is 12 years. This disease is at its peak in terms of severity and worse enough to cause death at the age of 20. DMD is a disorder that is linked with X chromosome of the gene. The children who are affected show symptoms such as motor skills that are developed late and most of the children affected by this disorder are unable to run or jump in a proper manner basically due to proximal muscle weakness which also gives rise to Gowers manoeuvre when getting up from the floor. Majority of the patients are diagnosed with this order at the age of 5, main reason being their lagging behind in terms of physical abilities and milestones in comparison to their peer. These children are in serious need of a wheel chair before their teenage years. This disorder gives rise to complication with regards to respiration, orthopedic and cardiac condition which cannot be treated or deal with any intervention. The average age at which the affected individuals die is around 19 years. A cognitive symptom or dysfunction that is non progressive can also be present in this disorder (Bushby etal, 2009, pp. 1).

The main reason behind its occurrence is a type of mutation that results in the elimination of dystrophin gene. The result of the mutations leads towards a defect in the protein that is known as dystrophin. Dystrophin is the main cause of muscle degeneration that is progressive in nature and symptoms become worse with every passing year thus leading towards ambulation by the age of 13.

Phenotype

The phenotypic expression of DMD depends upon the type of mutation or genotype and the effects of that mutation on the production of ...