There are more than thirty inherited muscular dystrophy that causes the muscles to wither, and weaken. Even though there are over thirty different types, Duchenne muscular dystrophy is the most severe form of muscular dystrophy. Around three years of age is when symptoms begin to show, and with continuous muscle impairment the children that have Duchenne muscular dystrophy are normally wheelchair bound in their early teens. Following that; when the child reaches their mid to late twenties they suffer from cardiac/respiratory failure leading to death. Duchenne muscular dystrophy is a form of muscular dystrophy that only affects boys. Cardiomyopathy is present in around twenty-five percent of patients at age 6, and increasing as age goes up to fifty-nine percent at age 10. At eighteen years of age over ninety percent of patients have Cardiomyopathy. There is no known cure available at this time; but there are treatments that include steroid administration, and assisted ventilation. The absent dystrophin in Duchenne muscular dystrophy is due to a frame shift in the gene. Characterized by different mutations, the Duchenne muscular dystrophy gene is one of the largest in the human genome. They ran tests on a six-year-old boy who was already diagnosed with Duchenne muscular …show more content…
Not only does it weaken your muscles, but it makes it very difficult to do day-to-day functions. I could not even begin to imagine what it would be like to have this disorder, or to have a child with this disorder. Also, being that it is the most severe form of muscular dystrophy, it would be extremely hard to live with, if not unbearable. To me being wheelchair bound by the early teens would be just horrible, because of all or the sports/activities that child will have to miss out on. The child also lives an extremely short life with cardiac/respiratory failure setting in around the mid to late
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).
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
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
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.
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
Of course, the condition will most likely involve a heart problem, which is discovered at birth, along with a webbed neck, chest deformities, many birth marks, also known as café-au-lait spots, and a short stature. The features of this syndrome are not fully known, considering the fact that there are numerous characteristics and no two infected individuals have the same exact features. Like in most other disease cases, there are lists of more minor symptoms that can occur in an individual. In infants and newborns, feeding problems are present, due to a poor sucking reflex. Behavioral problems and developmental delays can occur, which causes the individual to achieve milestones slower, such as sitting and walking.
1. Identify and describe the types, manifestations, and treatments of muscle strain. According to Table 39-2 from Huether and McCance (2017), there are three types of muscle strain. The first type of muscle is called a first-degree muscle strain.
I chose this article because it interested me in seeing what a disease can do to both children and
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
Amyotrophic Lateral Sclerosis, or ALS, was discovered in 1869 by a French neurologist Jean-Martin Charcot. Today this disease is commonly referred to as Lou Gehrig’s disease, after the famous baseball player who suffered through ALS. ALS is a progressive nervous system disease where the nerve cells break down impacting bodily functions. The disease affects the motor neurons that provide voluntary movements and muscle control. Those who are diagnosed with ALS will eventually lose their ability to eat, speak, move and breathe.
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
Given the fact that my grandfather exhibited severe
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.
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).
The muscular system might be the most important system in the whole entire body. This system helps us digest food and keeps our heart and lungs moving. In the body there are two different types of muscles: the voluntary and involuntary. The muscular system helps you move because it helps your joints move which helps your bones bend. All of the major organs in this system are the heart, the lungs, and the digestive tracks.