Duchenne Muscular Dystrophy (DMD) was first recognized in the 1890’s by a French Neurologist named Guillaume Duchenne. He studied cases of 13 young boys who had muscle weakness. He followed these boys from hospital to hospital continuing to study them. After performing muscle biopsies he confirmed that the weakness was from a muscle disorder, rather than neurological. He named the disorder of muscle weakening muscular dystrophy, his name was added later on. DMD is muscular disorder that causes progressive weakening of muscles. It is one of nine types of Muscular dystrophies, it is the most common, most fatal, and progresses the fastest. It is genetic through a mutated gene on the X chromosome, it is passed through the Mother. In many cases it happens when there is not any known family history of the disorder. …show more content…
As a result, muscle cells are very weak and fragile. DMD occurs primarily in boys but can occur in girls (very rare), and can occur in any race. Symptoms occur in very early childhood, usually before 6 years old. Some signs and symptoms are clumsiness, delayed motor skills, trouble climbing stairs, trouble running, trouble maintaining balance, and enlarged calves. Intellectual disabilities are possible but are not always present, and they do not get worse over time. The muscles of the hips, pelvis, thighs, and shoulders are usually affected first. During the teenage years the child is usually wheelchair dependent due to the muscles being unstable. The heart and lungs are also affected by the mid-teens. As a result, breathing disorders and an enlarged heart
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).
Researchers began to wonder what caused this awful disease and how it could be cured. Technology has completely evolved since the diagnosis of Lou Gherig now with modern medicine it has been realized that there are reasons become about. Most cases are caused by multiple brain trauma, and the other is simply genetic. The cruelest part of ALS is that as the body begins to fail and no longer has any function the mind is aware and can do nothing but watch it’s own destruction. Steve Smith a running back for the Oakland Raiders he was diagnosed with ALS and has been put on a ventilator to be able to breathe and his wife is now his full time nurse.
Outline: According to Egans, ALS, or amyotrophic lateral sclerosis, is a disease that affects the nerve cells in the brain and spinal cord, “a progressive disease degeneration of both upper and lower motor neurons.” ALS prevents the nourishment of muscles, and when muscles are not fed the required nutrients, they atrophy. It hit’s areas of the spinal cord where the nerve cells that signal and control the muscles are located. As the area begins to die, it starts to scar or harden in that region. Motor neurons reach from the brain to the spinal cord and from the spinal cord to the muscles throughout the body.
Ataxia Telangiectasia Ataxia Telangiectasia (A-T) is an inherited disorder that affects the nervous system, immune system, and other systems of the body. The disorder usually progresses before the age of 5 and it makes it difficult for coordination and causes delayed development of motor skills like walking, problems with balancing, and using your hands to grab items etc. A person may even have slurred speech, sway when they walk and wobble. These problems can affect a person as they get older and the effects can become worse as the person ages.
One disease that has always interested me in the skeletal system is clubfoot. I ended up finding a study that compared serial casting and stretching techniques in children with congenital clubfoot. In this study they took thirty two children, which were newborn, and split them into two different groups. One group was treated with the stretching techniques and the second group was treated with the casting technique which was during their first two months of their lives. Each of the different techniques started within the first eight days of their lives.
This condition worsens with age. Marfan syndrome becomes more obvious as changes occur in connective tissue. The major systems affected are • 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] Tall stature along with long thin digits and alteration in body proportions are seen.
This condition is more common in boys than it is in girls. It occurs most often in children 3–10 years old. SYMPTOMS Your child may: Complain of pain in the hip, groin, or thigh. Walk with a limp.
At earlier stage, they cause mild muscle problems. Some patients may show symptoms like trouble in walking, trouble in writing and speech problems. Gradually the strength is lost and the patient has difficulty in movements. When
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 intercostal muscles, the muscles we use to breathe, are very weak. There can be an increased chance to get respiratory diseases such as influenza, pneumonia, and the common
There are so many different levels of severity and various effects on the body, and observing Noah showed this to me. I have seen children adversely affected in a wheelchair and unable to talk at all, but that is not Noah. He is a three and half year old boy who just began preschool at Northern Shores Elementary this school year. Physically, Noah has low muscle tone, abnormal developed bones, and shortening of muscles and tendons. When he first came into the class he needed a walker and was unable to get up at all from a sitting position.
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.
Myotonic Dystrophy- Overview The myotonic dystrophy is a multisystem disease (that affects several body systems) characterized by a difficulty in relaxation of muscles after an intentional contraction. The disease can occur in adulthood, or age perinatal; in the latter case it is called congenital and has a much more serious trend. The devices are more or less involved the central nervous system, the cardiovascular system, the endocrine system, the view, the muscles, of course, the respiratory system.
Dejerine Syndrome 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. Dejerine syndrome may lead to the following symptoms: • Muscle weakness, • Loss of sensation • Curving of the spine • Loss of hearing along
Introduction 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.