A (any) Muscular Disorder - Essay Example

Human anatomy: Muscle disorder Muscle dystrophies are usually a group consisting of various muscle diseases, each of which is caused by a particular gene abnormality characterized by muscle wasting, contactures and weakness. Although most of the time abnormal gene is inherited, it can at times occur spontaneously. This means that any of these diseases can surely arise even though no one in the family has ever been affected or has the abnormality. This paper is going to examine closely one of these muscular dystrophy disorders which is Duchenne muscular dystrophy (DMD).

So what is Duchenne muscular dystrophy? Duchenne muscular dystrophy is a form of muscular dystrophy recessive which is X-linked and affects mostly boys causing degeneration of the muscle and eventually death. It is caused by mutation of a gene known as dystrophin, the most prominent and large gene found in the human chromosome and is responsible for coding a protein called dystrophin, a crucial structural component inside the muscle tissue, charged with provision of structural stability of dystroglycan complex (DGC) a component of cell membrane.

Although both males and females are capable of carrying the mutation, males are the most affected and rarely do the females exhibit any signs of the abnormality.Duchenne muscular dystrophy at first causes progressive proximal weakness of the muscles of the pelvis and legs, which is usually associated with mass muscle loss. Finally this weakness usually spreads to such parts as neck, shoulders, hips, thighs, pelvic area and later on the voluntary muscles around a person’s legs, trunk and the arms.

There is an enlargement of the calves and by the time early teenage sets in the respiratory and heart muscles are also affected.Duchenne muscular dystrophy mostly affects boys at a rate of 1 out of every 3600 resulting in degeneration of muscle and eventually death. The most severe and common type of Muscular dystrophy (MD) occurs amongst children and accounts for over fifty percent of all known cases. Unlike girls, the affected boys usually lack second X-chromosome to cater for the abnormal X-chromosome, which usually contains the abnormal genes.

DMD typically appears in boys aged between 3 and 5 years and weakness is usually noticed as the children begin to run or walk. Duchenne muscular dystrophy causes calf muscles to enlarge, and this is one of the most significant characteristic of the disease.The most common symptoms of this disease start with the weakness of the pelvis and upper legs. Children with this disease usually fall down a lot, have problems rising from a sitting or lying position. They also waddle a lot while walking, have problems jumping and running and lastly they may have unusually enlarged muscles that appear larger than normal due to accumulation of fat.

DMD thus typically appears mostly in boys aged between 3 to 5 years, and usually progresses quickily.Most children affected by DMD are not able to walk by the time they are age twelve and may later be in need of a respirator for aiding them to breathe. These children usually die before their 20th birthday mostly from respiratory complications, heart trouble or infection.Currently, there is no cure for this disease. The current treatment is aimed at curbing the beginning of the symptoms to assist in maximisation of a quality life.

Some of these methods include; physical therapy to help in maintenance of flexibility, function and muscle strength, use of orthopedic appliances such as wheelchairs and braces, may greatly improve ability for self-care and mobility, encouragement of mild but non-jarring physical exercise for instance swimming and lastly use of supportive appropriate respiratory devices for breathing as the disease progresses is really important. ReferencesAlan, E. E. (2008). Muscular Dystrophy. New York: Oxford University Press.

http://mda.org/disease/duchenne-muscular-dystrophy/overviewhttp://www.mdas.org.sg/index.php?option=com_content&view=article&id=49&catid=7&Itemid=25