Muscular Dystrophy

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Muscular Dystrophy is a neuromuscular disease which is a group of inherited diseases that results in muscle weakness and loss of muscle tissue. When someone is experiencing muscular dystrophy, the muscle tissue that is destroyed is replaced with fat and connective tissue. Since it is an inherited disease, there is an abnormality in a specific gene that affects the levels of dystrophin which is a protein involved with muscle strength. However, there is one third with muscular dystrophy that receive it from an abnormality in their DNA and not from his or her parents. One who has muscular dystrophy often suffers from mental instability, delayed development and reaction of motor skills, difficulty using one or more group(s) of muscle, drooling, drooping eye lids, frequent falls, loss of muscle strength and size, and difficulty walking.

When it comes to the genetics behind muscular dystrophy, the men are more susceptible to getting it versus females. Since females carry two X chromosomes and men carry one X and Y, the mother of the female would have to be a carrier and the father would have to have muscular dystrophy. Therefore, it is rarer for a female to receive it than a male. As for the different types of muscular dystrophy, there are nine main types which consist of myotonic, duchenne, becker, limb-girdle, facioscapulohumeral, congenital, oculopharyngeal, distal, and emery-dreifuss. Myotonic muscular dystrophy is the most common form seen in adults in which the muscles have a difficult time relaxing. Since the muscle is not relaxing properly, it can result in the muscle degenerating which causes muscles to shrink and waste away. As for duchenne, it is the most common form in young children. This particular muscular dystrophy only affects males and like many other types is due to an abnormality with the gene that makes the protein dystrophin which helps muscle cells keep their shape as well as their strength. People who have duchenne usually get it at about two to six years old and usually lose mobility around the age of ten to twelve years old; therefore, they are required to use a wheelchair. Many people with duchenne usually end up with cardiovascular and respiratory problems which can result in the use of a ventilator, and they can also develop abnormal spine curvatures and joint contractures. Another type is becker muscular dystrophy which is similar to duchenne but much less severe and develops slower. This type of muscular dystrophy appears between the ages of two to sixteen and sometimes in one’s twenties. Limb-girdle muscular dystrophy is when the muscles in the shoulders and arms and the hips and legs are weakened which usually shows anywhere between one’s teen years to their early adulthood. If limb-girdle affects the patients’ hips and legs, it can make it very difficult to impossible for them to walk which may result in the use of a wheelchair. Facioscapulohumeral muscular dystrophy is when the muscles in the face, shoulder, and upper arm are deteriorating and like limb-girdle shows anywhere between teen years to early adulthood. Because facioscapulohumeral affects the muscles it does, it can make it difficult for one to swallow, chew, and speak. Congenital muscular dystrophy is when a person has it present at birth and often suffers severe joint contractures. A type of congenital muscular dystrophy is fukuyama which has to do with a deprivation of myosin making it difficult for muscles to contract and relax as soon as birth. In addition to suffering from joint contractures fukuyama can also lead to the development of brain abnormalities. Oculopharyngeal muscular dystrophy occurs in the muscles dealing with the eyes and throat and often appears in one’s forties, fifties, and sixties. This type of muscular dystrophy can lead to difficulty swallowing which can later cause choking and reoccurring pneumonia. Distal muscular dystrophy affects the distal muscles like the forearms, hands, lower...
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