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). Other symptoms for DMD include pseudohypertrophy (the growth of an organ or a part due to an increase in the amount of other tissue that is fatty
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.
Muscular Dystrophy Muscular dystrophy is a genetic disease or genetic disorder. Muscular dystrophy is when someone doesn’t have any muscle mass. In the article “Muscular Dystrophy: Causes, Symptoms and Treatments” it says that “The most common form of muscular dystrophy – Duchenne muscular dystrophy – typically affects young boys, but other variations can strike in adulthood.”(Tim Newman)
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
Critique of a Possible Gene Therapy for Duchenne Muscular Dystrophy The article “Rescue of dystrophic skeletal muscle by PGC-1α involves restored expression of dystrophin-associated protein complex components and satellite cell signaling” by Hollinger and others (2013) looked to investigate the effectiveness of Peroxisome Proliferator-activated Receptor Gamma Coactivate 1-alpha (PGC-1α) gene transfer therapy used to alleviate muscle degeneration in people with Duchenne muscular dystrophy (DMD) disease, who essentially lacks protein dystrophin. The authors investigated how PGC-1α would be able to restore the level of dystrophin by upregulating the expression of utrophin, a similar protein, to act as a substitute and prevent the continuing decline of muscle function. Treatment was done on mouse models, then measured utrophin level histologically, PGC-1α expression biochemically, and muscle force functionally. Positive results were mostly interpreted from the data, showing an increase in PGC-1α expression, higher levels of utrophin and associated molecules, and produced stronger contractions in treated muscle cells compared to the controls. This study was well-produced but adjustments and elaboration were needed.
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. The patient is diagnosed with PD only if chorea, a symptom where the patient experience involuntary movements and rapid motion, is observed. In short, PD and HD are progressive diseases that share the same general characteristics, but if studied closely many remarkable differences can be
Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease, is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. ALS is also named Lou Gehrig’s disease because he was the first person to bring ALS to a national attention in the 1930’s. Lou Gehrig’s amazing professional baseball career was ended short by this horrific disease. There are multiple treatments for ALS, but no cure for this fatal disease. In 2014, ALS was brought to major attention by the ALS Ice Bucket Challenge. Although Lou has the disease named after him, there are several other notable individuals who have been diagnosed with ALS. These individuals include Stephen Hawking, Jim Hunter, Steve Gleason, George Yardley
The different types of treatments differ from the symptoms the individual experiences, if any. If the individual is diagnosed with the disorder the doctor would recommend a type of counselling or extra learning alterative to catch up on learning. There is no medication that will help this disorder. The best way to handle the situation is providing physical therapy to help strengthen the weak muscles. Another way to help is through providing extra assistance in schooling.
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).
There is no known cure for SLE, the aim is to reduce symptoms. Treatment can differ depending on how severe the symptoms are and which part of the body is being affected. Medication that can be provided are Anti-inflammatory medication for joint pain and stiffness, Corticosteroids, to reduce the immune responses, antimalarial drugs for skin and joint problems and steroid medication. Diet and exercise should be taken into to consideration, avoiding certain foods and minimizing stress could decrease the likely hood of triggering symptoms. SLE is one of the more fatal forms of rheumatic diseases that affects women more than men.
There are some cases where the disease can either be autosomal recessive or X-linked, but these are less common.1 ALS is a disease that affects motor neurons, eventually causing muscles to become weakened to the point of not being usable and breathing becomes increasingly difficult. Individuals with this disease lose the ability to walk, have difficulty chewing or swallowing, lose mobility of other muscles, and gain difficulty in breathing. Their muscles often become thinner due to atrophy. Symptoms of ALS do not typically develop until the person affected is
The “myo” means muscle, and “trophic” means nourishment or food (“ALS”). So it means no nourishment/food for the muscles (“ALS”). In addition, this is a rare disease that affects someone 's ribs, nerves, arm muscle, leg muscle, and tongue, and only about ten percent of the people who have it live more than ten years (Chenes 23).
Myasthenia gravis is a chronic autoimmune neuromuscular disease characterized by varying degrees of weakness of the skeletal muscles of the body. It occurs when communication between nerve cells and muscles becomes impaired. This impairment prevents crucial muscle contractions from occurring, resulting in muscle weakness. Normally when impulses travel down the nerve, the nerve endings release a neurotransmitter substance called acetylcholine. Acetylcholine travels from the neuromuscular junction and binds to acetylcholine receptors which are activated and generate a muscle contraction.
French physician, Antonie Marfan, discovered this disease in a 5 year old girl. The child had extremely long/thin fingers and arms that resembled a spider. Marfan’s patients shared some things in common. They all had long/thin arms and fingers, they were all thin, and they all had a tall height.
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.