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Duchenne muscular dystrophy personal essay
Duchenne muscular dystrophy personal essay
Duchenne muscular dystrophy personal essay
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Duchenne muscular dystrophy is a genetic disorder of muscular weakness, typically in boys. DMD is a form of muscular dystrophy, and is caused by a defective gene for dystrophin. This could be caused genetically or to people without a known family history. DMD occurs in about 1 out of every 3,600 male infants.
This disease usually happens in childhood. Muscle weakness can start as early as age 3, first affecting the muscles of the hips, pelvic area, thighs and shoulders, and later the skeletal muscles in the arms, legs, and trunk. Other symptoms include frequent falls, trouble getting up or running, big calves, or learning disabilities. DMD can also affect your heart, lungs, and other parts of the body. There is no cure, but physical therapy
Physiological Basis of disease: DMD is the commonest and most serious form of the dystrophies. The gene responsible for dystrophin which, when absent, causes DMD. Amount of dystrophin correlates with the severity of the disease (i.e., the less dystrophin present, the more severe the phenotype). Since the gene is on the X chromosome, it primarily affects males, and females who are carriers have milder symptoms ( www.nlm.nih.gov/medlineplus/ency/article/000705.htm).
Emery-Dreifuss muscular dystrophy is a genetic disease. It can express itself in three forms. This forms are:
As motor neurons degenerate, this obviously means they can no longer send impulses to the muscle fibers that otherwise normally result in muscle movement. Early symptoms of ALS often include increasing muscle weakness, especially involving the arms and legs, speech, swallowing or breathing. When muscles no longer receive the messages from the motor neurons that they require to function, the muscles begin to atrophy (become smaller). Limbs begin to look thinner as muscle tissue atrophies (Choi, 1988).
Spinal Muscular Atrophy, also known as “SMA” is a genetic and also a motor neuron disease that affects the area of the nervous system that controls your voluntary muscle movements such as walking, crawling, and swallowing. When someone acquires this condition their muscles start to shrink as a cause to the muscles not receiving signals from the nerve cells in the spine that control function. Spinal Muscular Atrophy is a rare but serious condition.
DMD also known as muscular dystrophy is muscular disease that occurs on young boys around age four to six. Muscular dystrophy is genetically transmitted disease carried from parent to offspring. This disease progressively damages or disturbs skeletal and cardiac muscle functions starting on the lower limbs. Obviously by damaging the muscle, the lower limbs and other muscles affected become very weak. This is ultimately caused by the lack dystrophin, a protein the body produces.
Muscular Dystrophies are genetic disorders that are distinguished by degenerative muscles and weakness in the muscles. Duchenne muscular dystrophy is a dominant sex-linked disorder that mostly affects males, and it affects one in 3,500 males (Furlong, 2015). Males inherit Duchenne Muscular Dystrophy when they get an X chromosome (they inherit the chromosome from their mother) with a mutated dystrophin gene. Since males only have one X-chromosome (males have XY, females have XX), they are more vulnerable. If a female inherits only
Muscular Dystrophy is a genetic disorder in which your muscles drastically weaken over time. Muscles are replaced with “connective tissue,” which is more of a fatty tissue than a muscular one. The connective tissue is the tissue that is commonly found in scars, and that same tissue is incapable of movement. Although Muscular Dystrophy affects muscles in general, other types affect certain groups of muscles, and happen at different periods throughout a lifetime. For example one of the most common types, Duchenne Muscular Dystrophy, targets muscles in the upper thigh and pelvis. The disease is displayed throughout early childhood, usually between ages four and seven. This genetic disorder occurs only in boys. People have difficulty sitting up or standing and lose their ability to walk in their early teens. Sadly most people die by the age of twenty. A second common type, Becker’s Muscular Dystrophy affects the same muscles as Duchenne, but first appears in teenage years. Most people with Becker’s only live into their forties (Fallon 1824-1825).
It is estimated that 1 out of every 5,600-7,700 boys ages 5-24 have Duchene or Becker muscular dystrophy. (“Data & Statistics,” 2012 April 6) Muscular dystrophy is a group of genetic diseases defined by muscle fibers that are unusually susceptible to damage. There are several different types of muscular dystrophy some of which shorten the affected person’s lifespan. (“Muscular dystrophy: Types and Causes of each form,” n.d.) There is a long history of the disorder but until recently there wasn’t much knowledge of the cause. (“Muscular Dystrophy: Hope through Research,” 16 April 2014) Symptoms are obvious and can be seen as soon as a child starts walking. (“Muscular Dystrophy,” 2012 January 19) Although muscular dystrophy mostly affects boys, girls can get it too. (“Muscular Dystrophy,” 2012 January 19) There is no cure for muscular dystrophy but there are several types of therapy and most types of muscular dystrophy are still fatal. (“Muscular Dystrophy: Hope through Research,” 16 April 2014)
An Orthopedic Impairment is the most common of physical disabilities. A physical disability is any condition that interferes with how a child uses their body. An Orthopedic Impairment is defined as, “A bodily impairment that is severe enough to negatively affect a child’s educational performance” (education). Orthopedic Impairments are often separated into three main categories. These categories are neuromotor impairments, musculoskeletal disorders, and degenerative diseases. Although neuromotor impairments typically involves the brain and spinal cord, they can also affect a child’s ability to move, use, feel, or control certain parts of their body. Musculoskeletal disorders include diseases of the bones and muscles, such as limb deficiency or club-foot. Degenerative diseases affect a child’s motor skills such as muscular dystrophy. This is a group of genetic diseases in which muscle fibers are very vulnerable to damage. Some causes of orthopedic impairments can be genetics, injury, birth defects, disease, burns, fractures, cerebral palsy, and many other circumstances. Some examples of orthopedic impairments that may be caused by a birth defect are clubfoot, spina bifida, and absence of or malformation of one for more limbs. Some examples that may be caused by a disease consist of muscular dystrophy, arthritis, and childhood obesity. Other causes of orthopedic impairment may contain fractures, which cause stiff and/or immobile joints called contractures.
According to Talbot et al. (2010), Motor Neurone Disease, which is also known as MND, is when progressive degeneration occurs in the motor neurones of the brain and the spinal cord. Motor neurones are nerve cells that control the muscles in the body. They also stated that as the progressive degeneration occurs of these muscles, messages to the muscles stop working which leads to the muscles then becoming weak and they begin to waste. The wasting of muscle usually begins in the arms and legs of the person who is suffering from Motor Neurone Disease. Irish Motor Neurone Disease Association (2014) stated that some patients suffering from Motor Neurone Disease can develop a weakness or wasting of the muscles in their face and throat. If this does occur, the patient with Motor Neurone Disease can have problems with swallowing, talking, chewing, walking, drinking and even breathing.
Duchenne Muscular Dystrophy, also known as DMD, is the most common form of muscular dystrophy. Muscular dystrophy is a condition that is inherited, and it is when muscles slowly become more and more weak and wasted. Duchenne muscular dystrophy is a form of muscular dystrophy that is very rapid and is most commonly found in boys. In muscle, there is a protein named dystrophin. Dystrophin is encoded by the DMD gene. When boys have Duchenne muscular dystrophy, they do not produce enough dystrophin in their muscles. This causes weakness in their muscles. Parents can tell if their child has duchenne muscular dystrophy by looking for various symptoms.
Duchenne's muscular dystrophy, also known as psuedohypertrophic muscular dystrophy, is a typical sex-linked disorder in which the muscles degenerate throughout a person's life. It literally means "faulty nutrition of the muscles. " Muscular Dystrophy has no cure, and this particular type of muscular dystrophy affects only males. One in 3,500 baby boys are born with this disorder and while survival is rare beyond the early 30s, death is usually caused by a respiratory disease.
Three years ago I started having problems with my neck. Come to find out I have a condition called Dystonia. Dystonia, for me, causes muscle constriction in my neck. Through the last three years the doctors still have no idea what to do, and they believe that something else could be contributing to my condition. Dystonia is not supposed to travel to other regions in the body, but one year ago my torso started to curve. I am always uncomfortable, and in pain from this. Even with this, I push myself more in the tasks I can do.
muscular dystrophy has many forms and therefore symptoms can vary between the variations. Overall symptoms include the weakening of skeletal muscles and the defect and death muscle tissues. Duchenne muscular dystrophy is the most common and affects young boys such as Eddie.
The dystonias comprise a heterogeneous group of neurologic movement disorders, which collectively represent the third most prevalent neurological movement disease in the United States (Bragg, 2011). Clinical manifestations of disease include sustained or intermittent, involuntary muscle contractions that result in abnormal twisting, postures, and/or movements (Albanese, 2013). Because of the broad spectrum of clinical characteristics and disease pathology, it is necessary to classify dystonias to aid in diagnosis, treatment, and research.