Muscle Dystrophy Essay, Research Paper

DESCRIPTION OF MUSCULAR DYSTROPHY

Muscular dystrophy is a group of imperfect, familial diseases in which the musculuss that control motion pervert and weaken. In some signifiers of this familial disease, the bosom and other nonvoluntary musculuss and variety meats are affected excessively.

There are nine types of muscular dystrophy & # 8211 ; ( 1 ) Myotonic Muscular Dystrophy ( 2 ) Duchenne Muscular Dystrophy ( 3 ) Becker Muscular Dystrophy ( 4 ) Limb-Girdle Muscular Dystrophy ( 5 ) Facioscapulohumeral Muscular Dystrophy ( 6 ) Congenital Muscular Dystrophy ( 7 ) Oculopharyngeal Muscular Dystrophy ( 8 ) Distal Muscular Dystrophy ( 9 ) Emery-Dreifuss Muscular Dystrophy.

The signifiers differ in age at which the disease appears, the badness, the musculuss affected, the rate of symptom patterned advance and the manner the disease is inherited. Some signifiers merely affect males, others affect both male and females. Some sick persons enjoy a normal life span with mild symptoms that progress really easy while others experience fast and terrible musculus failing and cachexia, and decease in their late teens to early 20s. Through progresss in medical attention, kids with muscular dystrophy are populating longer than of all time before.

There are several trials to find whether one has muscular dystrophy or non, such as, a needle biopsy & # 8211 ; a little sample of musculus tissue is taken from the thigh which is used to find whether it contains dystrophin. Other trials include electromyography, electrocardiography, and the traditional & # 8220 ; unfastened musculus biopsy & # 8221 ; where a cut is made into the tegument and a piece of musculus is removed and the musculus fibres are examined under a microscope.

SYMPTOMS OF THE DISEASE

1. Myotonic ( besides called Steinert & # 8217 ; s disease ) & # 8211 ; The most common signifier of muscular dystrophy in grownups, myotonic muscular dystrophy affects both work forces and adult females, an it normally appears any clip from early childhood to maturity. In rare inborn instances, it appears in neonates. The name refers to a system myotomia & # 8211 ; prolonged cramp or stiffening of musculuss after usage. This symptom is normally worse in cold temperatures. Myotonic dystropy consequences from a cistron defect on chromosome 19, one of the somatic chromosomes. The cistron incorporating the defect is for an enzyme late named myotonin protein kinase.

The disease causes musculus failing and impact the cardinal nervous system, bosom, GI piece of land, eyes ( doing cataracts ) and endocrinal secretory organs.

2. Duchenne & # 8211 ; The most common signifier found in kids, Duchenne muscular dystrophy affects merely males. It appears between the ages of 2 and 6. Early marks of Duchenne include frequent falling, trouble acquiring up from a sitting or lying place, and a waddling pace. Another trademark is the evident expansion of the calf and sometimes other musculuss, which is truly due to an accretion of fat and connective tissue in the musculus. A blood sample shows a really high degree of creatine kinase, an enzyme that leaks out of damaged tissue. The musculuss lessening in size and turn weaker over clip yet may look larger. Disease patterned advance varies, but many sick persons need a wheelchair by age 12. In most instance, the weaponries and the legs and spinal column becomes increasingly deformed. Some sick persons are mildly retarded. The ulterior phases of the disease are marked by terrible external respiration and bosom jobs. Sick persons normally die in their late teens or early 20s.

3. Becker & # 8211 ; At one clip, physicians thought that Becker dystrophy might be an wholly different disease from Duchenne. But after the cistron for Duchenne was isolated, research workers found out that people with Becker dystrophy has defects in the same dystrophin cistron and that the same dystrophin protein was affected as in Duchenne. The cistron affects in Becker are different from those in Duchenne, so that some working dystrophin is made. It normally appears between the ages of 2 and 16 but can look every bit late as age 25. Like Duchenne, it affects merely males and causes bosom jobs. Disease badness varies. Sick persons can normally walk into their 30s and populate farther into maturity.

4. Limb-girdle & # 8211 ; This appears in the teens to early maturity and affects males and females. In its most common signifier, it causes progressive failing that begins in the hips and moves to the shoulders, weaponries and legs, Within 20 old ages, walking becomes hard or impossible. Sick persons typically live to mid to late maturity. Research workers fou

neodymium that cistron defects on chromosomes 2,13,15 and 17 dramas a function in the development of this type of muscular dystrophy.

5. Facioscaplohumeral & # 8211 ; This appears from childhood to early teens and affects merely males. It causes musculus failing and cachexia in the shoulders, upper weaponries and lower legs. Life endangering bosom jobs are common and can besides impact bearers & # 8211 ; those who have the familial information for the disease but do non develop the matured version ( including female parents and sisters of sick persons ) . Contractures occur early in the disease. Weakness can distribute to chest and pelvic musculuss. The disease progresses easy and causes less terrible musculus failing than some other signifiers of muscular dystrophy.

6. Congenital & # 8211 ; This is truly a group of diseases, non a individual disease. One signifier that has been clearly described is Fukuyama inborn dystrophy. This upset involves terrible failing of the facial and limb musculuss and a generalised deficiency of musculus tone, normally looking before 9 months. Joint contractures are common. Brain abnormalcies are besides present, and most kids have terrible mental and address jobs. Seizures are frequently portion of the disease, and medicines are prescribed for these. Physical therapy is needed to minimise the contractures. The disease has been linked to a cistron defect on chromosome 9, although the precise cistron and its protein are so far unknown.

Another signifier of inborn dystrophy seems to be related to a lack or malfunction of the protein merosin, which usually lies outside musculus cells and links them to the environing tissue. The upset is likewise to Fukuyama dystrophy, with musculus failing evident at birth or in the first few months of life, terrible and early contractures and frequently joint malformations. This upset has been named inborn muscular dystrophy with merosin lack and appears to be due to an as-yet-unidentified defect on chromosome 6.

7. Oculopharyngeal & # 8211 ; The name means oculus and pharynx, muscular dystrophy. It normally starts with drooping of the palpebras, most frequently in the 40s or 50s. This is followed by other marks of oculus and facial musculus failing, every bit good as by trouble in get downing. The ulterior phases of this easy progressive disease may include failing in the pelvic and shoulder musculuss. Swallowing jobs can take to choking and perennial pneumonia. The disease is linked to a cistron defect on chromosome 14.

8. Distal & # 8211 ; This is a group of rare musculus diseases, which have in common failing and cachexia of the distal musculuss of the forearms, custodies, lower legs and pess. In general, the distal dystrophies are less terrible and advancement more easy and affect fewer musculuss that the other dystrophies, although it can distribute to other musculuss.

9. Emery-Dreifuss & # 8211 ; This is a really rare signifier of muscular dystrophy. Muscle failing and blowing by and large get down in the shoulders, upper weaponries and lower legs. Weakness may subsequently distribute to affect the musculuss of the thorax and pelvic country. Contractures appear early in the disease, normally in the mortise joint and cubitus. Potentially fatal bosom jobs are a common portion of this upset.

CURRENT METHODS AVAILABLE TO TREAT MUSCULAR DYSTROPHY

Although there is no remedy for muscular dystrophy, there are several intervention options available to handle muscular dystrophy, depending on the type of muscular dystrophy. Physiotherapy is a common assistance used to alleviate uncomfortablenesss of the disease. Spinal column surgery ( scolosis and hollow-back ) , assisted airing, drug intervention ( steroids & # 8211 ; clenbuterol ) , myoblast transportations and cistron therapy are paths taken by muscular dystrophy patients depending on the signifier of the disease they have.

Future DIRECTION FOR TREATMENT

Since the finds of the Duchenne muscular dystrophy cistron and its protein ( dystrophin ) , scientists have been working to develop safe and effectual ways for infixing a working dystrophin cistron into the musculuss of male childs with Duchenne and Becker musculus dystrophies.

As scientists identify the cistron and protein abnormalcies that cause other signifiers of muscular dystrophy, the promise of farther familial therapies is besides spread outing. Under the Muscular Dystrophy Association Advisory Committee, Association-funded scientists intensively search for non-genetic therapies & # 8211 ; for illustration, corticoids & # 8211 ; that might decelerate, halt or change by reversal the patterned advance of the muscular dystrophies.