Spinal Muscular Atrophy Essay

* Following a SCI, the first priority is often to help the patient develop as much possible strength in the

Spinal Muscular Atrophy is classify as an interneuron abnormality and loss of the anterior horn cells in the spinal column. SMA is categorized into three subtypes with the classification embedded on the motor milestone achieved. Spinal type I (Werdnig-Hoffman disease) child is to weak that they never learn to sit, type II child learn to sit but never learn to walk without assistive device, and type III (Kugelberg-Welander disease) child can walk independently (Tecklin, 2015).

Muscular dystrophy is an inherited disease that was discovered in 1861, by Guillaume B.A. Duchenne. Muscular dystrophy is a group of heredity disorders characterized by rapidly-worsening muscle weakness. The trait for muscular dystrophy may be transmitted as an autosomal dominant which means a disorder that has two copies of an abnormal gene that must be present in order for the disease or trait to develop. In this case, if some original carrier of the disease had children, the children would have a fifty-fifty chance of inheriting the disease. It is also carried as an autosomal recessive trait, in which case the offspring of the original carrier would have a very small chance of

According to the MediLexicon Medical Dictionary, muscular dystrophy is defined as a general term for a number of hereditary, progressive degenerative disorders affecting skeletal muscles, and often other organ systems (Staff). Basically what that means is that muscular dystrophy is a genetic disorder that is passed down that affects the skeletal muscles and other organs by slowly breaking them down. Since it is genetic, it is not contagious and you cannot catch it from someone who has it. MD weakens muscles over time, so children, teens, and adults who have the disease can gradually lose the ability to do the things most people take for granted, like walking or sitting up. Someone with MD might start having muscle problems as a baby or

Duchenne’s muscular dystrophy is one of the most common forms over childhood muscular dystrophy and primarily affects boys; in total there are 30 different forms of muscular dystrophy 50% being duchenne’s muscular dystrophy (NIH, 2013). This type of muscular dystrophy usually begins to show symptoms around the pre-school age and affects the lower extremities first. By the age of twelve, most boys are in a wheelchair as the trunk muscles being to weaken leading to scoliosis and kyphosis. Eventually the diaphragm begins to weaken and young men with Duchenne’s muscular dystrophy will need assistance with breathing through the use of a ventilator (Naff, C. 2012). According to the 1st Edition of Perspectives on Disease and Disorders Muscular Dystrophy by the age of eighteen most young men would have experienced a cardio myopathy (weakening or the heart muscle) (Naff, C. 2012). Duchenne’s muscular dystrophy (DMD) is a chromosome X-linked and genetically inherited neuromuscular disease. The New England Journal of Medicine reports that Duchenne’s muscular dystrophy affects 1 in 3500 new born baby boys. Duchenne’s

Duchenne Muscular Dystrophy or DMD for short is a genetic disease that affects the skeletal muscles causing muscle degeneration and muscle wasting. Duchenne Muscular Dystrophy is an X-linked recessive chromosomal disease, which is caused by mutations in the DMD Gene (Regenerative Medicine). This Disease affects 1 in 3600 boys (Regenerative Medicine). A male born with this disease experiences respiratory dysfunction, trouble ambulation, cognitive impairment, some even experience premature death. Unfortunately, there is no cure for DMD, but there are research studies in the works for different therapies to help reverse this gene mutation and to elevate symptoms associate with this disease.

forms, the symptoms and signs change. All together there are a total of nine different types of

Spinal cord injury is a serious problem that effects close to 250,000 people in the United States with 10,000 people being injured per year . There are many things that can lead to spinal cord injury, including athletic injuries, car accidents, and recreational activities like swimming and biking. It primarily effects those between the ages of 16 and 30 and drastically effects the rest of their lives. It is a very debilitating injury that requires extensive medical care, often leaves the patients in a great deal of pain for the rest of their lives(2), and the treatment of which costs $10 billion dollars a year in the US.(facts from site 1) With all of these factors spurring research on there is a strong drive to

In each form of muscular dystrophy is caused by a genetic mutation particular to that type of the disease. Many of these actions are inherited but, some occur spontaneously

Pathophysiology: This form of muscular disease is caused by a deficiency in motor neuron proteins called SMN or survival of motor neurons. These proteins are necessary for normal motor neuron function. The deficiency is caused by a mutation on chromosome 5 in the gene called SMN1 most commonly. The adjacent SMN2 genes can sometimes compensate for deficient SMN1 genes. Recent research has found that the lack of SMN may, also, affect muscle tissue directly and not just motor neurons.

In most cases it is an X-linked genetic disorder that is carried by the mother but only manifesting in sons. It is caused by a mutated gene and results in low levels of dystrophin. Whereas normal muscles have dystrophin to help keep their shape and strength, those who suffer from MD tend to lack proper levels of this protein or will not be able to produce it at all. According to the Muscular Dystrophy Association, there are nine types of DM, with the two most common types being Duchenne and Becker. The symptoms of each type tend to differ, but Duchenne and Becker have similar signs: muscle weakness in the extremities, difficulty walking, lordotic posture, and enlarged calf muscles. The most easily recognizable sign of MD is a “toe gait,” which is characterized by the patient walking on his/her toes and walking with an abnormal forward curvature of the spine in the lumbar region. This gait is the result of the lower leg muscles compensating for upper leg muscles that no longer function, and the lordotic posture is due to a tilted pelvis caused by weakened muscles around the

Muscular dystrophy develops weaker and less muscular mass in a category of diseases. Our healthy muscles need more formulation of proteins. Therefore, this only transpires when genes are imperfect. There are nine major types of muscular dystrophy, which include duchenne, becker, congenital, limb-girdle, facioscapulohumeral, emery-dreifuss, distal, myotonic, and oculopharyngeal. Distinguish decay and reconstruction of the muscle fibers, making the skeletal muscle and muscle proteins weaker. Additionally, killing muscle tissues and cells. Due to all the different types of categories of muscular dystrophy most symptoms start at different ages. The condition does not discriminate it affects males, females, and all races. It does occur more with families who have a history with muscular dystrophy.

When I do a puzzles almost 100% of the time puzzle pieces will fall to the ground. Most people probably wonder why this is such a big deal. Once the puzzle piece is on the ground I can’t pick it up. Why is this a problem? It’s a problem because I have Duchennes Muscular Dystrophy and I am in a wheelchair. D.M.D causes muscle weakness. Here is an example of my everyday with Duchennes Muscular Dystrophy.

Spinal muscular atrophy (SMA) is a genetic disorder that affects the part of the nervous system that controls voluntary muscle movement. SMA is an autosomal recessive disease where each parent usually carries the mutated gene and both mutated genes are inherited to acquire the disease. “Two carriers have a twenty-five percent chance of having an unaffected child with two normal genes, a fifty percent chance of having an unaffected child who also is a carrier, and a twenty-five percent chance of having an affected child with two recessive genes (“Autosomal Recessive”).” Not many people are aware of SMA but,1 in 50 people are carriers of SMA and about 1 in 10,000 babies are affected (“Cure SMA”). People can get DNA testing done to see if they

Spinal Muscular Atrophy, also referred to as SMA, is an incurable autosomal recessive disease caused by the mutation or deletion of the survival motor neuron 1(SMN1) gene located on chromosome five. This illness is the number one cause of infant death from a genetic disease. The disease is researched and studied heavily in the hopes to find an approved treatment and cure for the disease. With that being said, any discoveries on the disease are very important. In ones research of SMA, key features of the disease must be discussed in great detail. The cause of SMA, the symptoms, the diagnosis, the progression of the disease, impacts of being the victim of SMA , any possible treatments (if there are any), and the support that is provided for families of the patient (if support is provided or not) are all important aspects of the research. Prior research on the topic must also be considered when discussing the disease in order to understand SMA.