Duchenne Muscular Dystrophy Research Paper

There are many reasons why children's and young people's development may not follow the expected pattern some of these are:

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). According to WebMD, type 2 spinal muscular atrophy is also referred to as chronic infantile spinal muscular atrophy. Moving on, type 3, which is also called the Kugelberg-Welander disease, is characterized by having difficulties running, getting out of a chair, and using the stairs form ages two to seventeen. Due to these issues, someone with type 3 spinal muscular atrophy will likely require a wheelchair to move from one location to another. In addition from the same article, type 4 spinal muscular atrophy only impact those with spinal muscular atrophy that are adults. The health problems for type 4 include shuddering, difficulties with breathing

Children with CGD tend to be a bit short in early childhood, but they grow at a normal rate. They do not have the rapid growth spurt of adolescence when other children their age do. They continue to grow but at a slow rate. They also do not show signs of puberty until later. They eventually do reach a normal height

Question: There are a number of different limb girdle muscular dystrophies(LGMD). Describe LGMD 2B. What are the main similarities & differences between LGMD 2B and the other LGMD’s? How does the reduction or absence of dysferlin in the skeletal muscle lead to the clinical symptoms?

Skeletal muscle, attached to bones, is responsible for skeletal movements. The peripheral portion of the central nervous system (CNS) controls the skeletal muscles. Thus, these muscles are under conscious, or voluntary, control. The basic unit is the muscle fiber with many nuclei. These muscle fibers are striated (having transverse streaks) and each acts independently of neighboring muscle fibers.

Last week, I have done my presentation in topic “Unhappy Triad” with my friends from my PBL group so I have learnt many experiences about presentation, group working and speaking skill also I have learnt about knowledge about my presentation topic “Unhappy triad” too. In this essay I will reflect about two major concepts including my preparation of this presentation and my experience during this presentation.

Muscular dystrophy is a group of muscle diseases that weaken the musculoskeletal system and hamper locomotion. Muscular dystrophies are characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the death of muscle cells and tissue.

Having a child diagnosed with achondraplasia is a horrible sentence to have handed down prior to birth or shortly after. This condition can be diagnoses before birth or after. Ultrasound testing may cause suspicion of the disease. Not all patients look the same. In few cases it is inherited from a parent. Most cases are a surprise. It is caused by a mutation in the gene of one of the parents. Parents with achondroplasia have a 50/50 chance of passing on the gene. There’s a 25% chance for a normal child, a 50% chance for a child with achondroplasia and a 25% chance the child will have two achondroplasia genes. When either or both parents have achondroplasia, prenatal testing is typically done. There are two types of Achondroplasia: homozygous and heterozygous. In homozygous it is termed “fatal” as there rare two copies of the defective gene. There are severe breathing problems and hydrocephalus that lead to an early death. In heterozygous, there is a presence of one copy of the gene. In diagnosis, there are one of two or both types of tests are ordered. In chronic villus sampling or

The most common universal symptom of AMC is limited or absent movement around small and large joints (contractures). The contractures are present at birth (congenital). The muscles of the affected limbs may be underdeveloped (hypoplastic), resulting in a tube-shaped limb with a soft, doughy

• Skeletal system-The facial appearance of affected patients may be distinctive, with elongation and asymmetry. Sometimes there may be a high arched palate resulting in speech disorders.[4]

Muscles make up about 40 to 50 % of the male body and 30 to 40 % of the female body. In that case we can conclude that the muscles play a very important role in our body. But one of the most important things about muscles is their ability to contract and help us with movement. The first step of a muscle contraction would start with the brain. The brain sends an impulse to the muscle, which then travels down through the motor neuron to the neuromuscular junction, to which it then lets out acetylcholine. The impulse then travels through the sarcolemma and transverse tubules (T- tubules). While the impulse passes through the transverse tubules, the sarcoplasmic reticulum releases calcium

Marfan syndrome is named after Antoine Marfan, the French doctor who first described the disorder in 1896. Marfan syndrome affects the body 's connective tissue. Connective tissue is found everywhere in the body. Think of it as a sort of "glue" that helps support your organs, blood vessels, bones, joints, and muscles.

Dejerine syndrome also commonly known as Dejerine-Sottas syndrome has been around for more than 100 years. Neurologists Joseph Dejerine and Jules Sottas discovered and coined the term in 1893. This syndrome is a neurological disorder that affects the nerves leading up to the spinal cord and brain. The syndrome includes various symptoms.

Amyotrophic lateral sclerosis (ALS) which is also known as Lou Gehrig's disease is a rapidly progressive neurological disease that attacks the nerve cells (neurons) in charge of controlling voluntary muscles in the body. The disease is classified to a group of disorders known as motor neuron diseases. Lou Gehrig’s disease causes weakness with a broad assortment of disabilities that eventually cause all muscles under voluntary control to be affected. The patient will eventually lose their strength and not have the ability to move their arms, legs, or any other body part. When muscles in the diaphragm and chest wall fail, patients lose the ability to breathe without a ventilator for support. Most people with ALS die from respiratory failure, usually within 3 to 5 years from the onset of symptoms. However, about 10 percent of ALS patients

Art is an amazing thing and now a days it is being used help many patients with their mental disorders and disabilities. With its power to help people express themselves better, bringing people closer and making sure that people are able to understand other peoples’ point of view, it is really helping people with mental disabilities make their lives much better than before.