Essay On Duchenne Muscular Dystrophy

Muscular dystrophy is when your muscles wear away and don’t really ever come back. In the same article it says that “Muscular dystrophy occurs in both genders and can strike at any age. However, Duchenne muscular dystrophy in the most common form and is most likely to occur in young boys.”(Tim Newman) Many people who have this genetic disorder usually walk on their toes and have trouble walking in general.

The disease Duchenne muscular Dystrophy (DMD) is the most common form of muscular dystrophy (1) in fact 3 out of every 10,000 births will result in a male born with this disorder (2). DMD is a recessive sex linked disorder that can only be passed down to the child if his mother is the carrier (2, 3). Symptoms for DMD are confinement to a wheel chair by the age of 11at the latest and are expected to die in their twenties to forties (2, 4). This is because DMD causes progressive muscle weakness and will reduce muscle tone throughout the body. Muscle weakness will usually begin its onset by the age of three (4).

According to WebMD, the first type of spinal muscular disease is the most serious variant due to the fact that most children with type 1 fail to live past two years of age from breathing issues because the muscles that control breathing are feeble. Symptoms of type 1 include limp arms and legs as well as the trouble swallowing. Moreover, type 2 spinal muscular atrophy occurs with children from six to eighteen months old. According to the National Organization for Rare Diseases, children with type 2 are able to sit on their own, but fail to walk more than 10 feet, however, once they mature to a teenager, they will be unable to sit independently. A symptom common for people diagnosed with type 2 is the fingers quivering (National Organization for Rare Diseases).

Each year duchenne muscular dystrophy affects around 1 in 3500 male births worldwide(1). Duchenne affects patient's whole life since it attacks skeletal system, respiratory system, and in progress stages it may attack the heart(2).The phases of duchenne muscular dystrophy help scientists understand the disease because each phase has its own symptoms. Moreover, each phase attacks specific systems and organs in the patient's body. Duchenne muscular dystrophy develops relentlessly over time, and can be divided into three phases, early phase , transitional phase, and teenager and adult phase(1). The Early phase of duchenne muscular dystrophy begins from the day is diagnosed until the patient is 6 years old(1).Duchenne can by diagnosed through a muscle biopsy, taking a sample

Therefore, they can be diagnosed by detecting abnormal movements. If the patient diagnosed with rigidity that causes a condition of stiffness, inflexibility, and resistance to the muscle motion, it means that the patient has HD[6]. The patient is diagnosed with PD only if chorea, a symptom where the patient experience involuntary movements and rapid motion, is observed.[5] In short, PD and HD are progressive diseases that share the same general characteristics, but if studied closely many remarkable differences can be

It is extremely important to look out for symptoms of Marfan syndrome. Scientists have been able to discover the symptoms of the syndrome from experimenting on mice. Symptoms include: flat feet, over-flexible joints, scoliosis, thin face, and a funnel chest. The disease may also effect the lens of the eyes due to the weakness of the ligaments. In addition, this disease may affect several internal organs.

Children also will show signs of A child who suffers with this syndrome will suffer with many developmental

Duchenne Muscular Dystrophy is a disorder that is both mentally and physically challenging. Duchenne Syndrome is caused by the mutation of a gene on the X-chromosome. A muscle protein, dystrophin, is affected by this mutation. The damaged gene cannot make enough dystrophin to work right, so it will result in DMD. Dystrophin is a protein that is associated with muscles in the heart, bones, and some in the nerve

Amyotrophic lateral sclerosis is a degenerative neuromuscular disorder that affects the motor neurons of the spinal cord and brain. Due to degeneration or destruction of the motor neurons, muscles throughout the body begin to become weak and waste away to the point that an individual has no muscle movement. In most cases, due to having muscle strength, a patient with ALS will succumb to their disease because of respiratory failure or dehydration and malnutrition. It is a progressive disease with a prognosis of 3 to 5 years after initial diagnosis. There is no cure for the disease as of now.

Even when there are many different diseases that bones within skeletons can show, rickets can be one of the easiest diseases to figure out. Children with rickets will not only show in life that a baby's soft spot is slow to close and bowed legs, but in death the skeletons have flared metaphysis, spinal and pelvic deformity, and bending deformation. The article relates to textbook readings because the textbook has made it known that rickets was not known prior to the medival times. Although, there is not much that is known from previous literature that has been read. There has been a case that is known of in personal life that could be caused from rickets.

This disease also breaks down brain cells, which are imperative for everyday functioning and intelligence. Symptoms of this disease include, developmental mental delay, seizures, stiff limbs, Optic atrophy: wasting of a muscle of the eye, resulting in vision difficulties, deafness, irritability, spasms, and ataxia which is the

Given the fact that my grandfather exhibited severe

al, (2007). Many parents have no idea about the things, causing pain and many other issues that come with having this disease. The most commonly affected population

Infants can lose motor skills such as crawling, sitting, or turning over. There is a milder form of Tay-Sachs called late-onset Tay-Sachs which causes muscle weakness and

Klinefelter syndrome, also known as ‘47,XXY’ and ‘XXY’ is found in males, this is due to the fact that the host male gets another X chromosome. The image on the right you can see the extra chromosome with the pair of sex chromosomes. Usually there are only two chromosomes that determine the sex, one from opposite sexes but when it comes to Klinefelters Syndrome there is an extra X chromosome. Because this due to the additional chromosome it can described as a chromosome disorder. The frequency of getting affect by Klinefelter syndrome is 1in 500 to 1,000 newborn males. Klinefelter syndrome isn’t inherited but occurs as random event during the formation of reproductive cells in a parent. SYMPTOMS AT BIRTH AND CHILDHOOD Birth: Small Penis Undescended Most people with the syndrome are not diagnosed until they are adults but sign of the syndrome show up as you grow to become an adult. If they are early dragonised they can receive help to overcome any problems that are caused by Klinefelter Syndrome KLINEFELTER SYNDROME SYMPTOMS DIAGRAMS GENETICS OF THE DISEASE While Klinefelter Syndrome is a genetic disorder it isn’t inherited by any of the male and female counter parts. This is caused by the additional X chromosome which is can described as an error in cell division called meiosis causes an reproductive cell to have abnormal number of chromosomes. The image on the right clearly shows the karyotype for Klinefelter syndrome and were the chromosome disorder is. Klinefelter syndrome is a chromosomal mutation due to the extra sex chromosome. It is a chromosomal disorder but is still due to the fact that it is random event. GENETICS OF THE DISEASE The additional X chromosome I found with the other two sex chromosomes making it a total of 47 chromosomes instead of 46 which leads to the male child's hormonal and sexual related abnormalities as the grow up. Klinefelter syndrome can be diagnosed through a physical examination, chromosome analysis, blood test and semen