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Lethal spinal muscular atrophy
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1 SanchezAndrea SanchezBiology 061Doctor HardinMonday, December 18, 2017Spinal Muscular AtrophySpinal Muscular Atrophy (SMA) it is a genetic disease that affects everything from the brain to your toes. It is a muscular diseases, therefore it affects all muscles in the body. The disease will affect motor cognitive ability things like clenching you fist or for newborns raising their head will be very limited due to this disease. This article outlines basic information on what the disease is. It explains the stages, the aspects of how it works and how there is treatment but no cure. (https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-6-71). This article provides an insight how this disease began as well as how it is today. To specify it shows how the diseases how …show more content…
(https://www.thieme-connect.com/products/ejournals/html/10.1055/s-2001-15264). This research article provides categories with data of visible data graphs on the categories. This research article also provides case studies. (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4628728/)Symptomsunfortunately this diseases weakens all muscle control, it beings by slowing down the muscles that allows us to chew and swallow, it can also cause hypotonia, and have respiratory problems and pneumonia, it can cause scoliosis.Causemutation in the survival motor neuron gene, it is a gene that gives us the ability to move the nerves in our muscles freely Age & onset progressionit can start from any age, there are four types of SMA. The first type is when it begins in an 7-18 months, children that have this cannot stand or walk around on their own without someone there to help them out, these children used to not live past two years but because of the technology we have now they are able to live longer. The second type is when it starts affecting their breathing, these children do live a lot longer. Type 3 is when older children and or teenagers that already learned to walk and stand suddenly lose that
DMD also known as muscular dystrophy is muscular disease that occurs on young boys around age four to six. Muscular dystrophy is genetically transmitted disease carried from parent to offspring. This disease progressively damages or disturbs skeletal and cardiac muscle functions starting on the lower limbs. Obviously by damaging the muscle, the lower limbs and other muscles affected become very weak. This is ultimately caused by the lack dystrophin, a protein the body produces.
Duchenne Muscular Dystrophy, also known as DMD, is the most common form of muscular dystrophy. Muscular dystrophy is a condition that is inherited, and it is when muscles slowly become more and more weak and wasted. Duchenne muscular dystrophy is a form of muscular dystrophy that is very rapid and is most commonly found in boys. In muscle, there is a protein named dystrophin. Dystrophin is encoded by the DMD gene. When boys have Duchenne muscular dystrophy, they do not produce enough dystrophin in their muscles. This causes weakness in their muscles. Parents can tell if their child has duchenne muscular dystrophy by looking for various symptoms.
Duchenne's muscular dystrophy, also known as psuedohypertrophic muscular dystrophy, is a typical sex-linked disorder in which the muscles degenerate throughout a person's life. It literally means "faulty nutrition of the muscles. " Muscular Dystrophy has no cure, and this particular type of muscular dystrophy affects only males. One in 3,500 baby boys are born with this disorder and while survival is rare beyond the early 30s, death is usually caused by a respiratory disease.
Muscular Dystrophy is a diverse group of disease which involves the weakness and wasting of muscles and leads to many other problems in physiological system. It is because of mutation in gene related to contraction and relaxation of muscles. Although recently no perfect treatment option is available for it but in nearby future cure of this disease will be available due to advanced technology and methods like gene therapy and stem cell technology.
It is characterized by normal early growth and development followed by a slowing of development, the loss of purposeful use of the hands, slowed brain and head growth, problems with walking, seizures, and intellectual disability.
Emery-Dreifuss muscular dystrophy is a rare form of muscular dystrophy characterized by early onset contractures of the elbows, achilles tendons and post-cervical muscles with progressive muscle wasting and weakness It is also associated with heart complications like cardiomyopathy and arrhythmia which in both cases can lead to death. Cardiomyopathy is a heart disease which affects the muscles of the heart. In cardiomyopathy is muscles get rigid, enlarged or thick. They also sometimes changed by scar tissues. On the other hand arrhythmia is a disorder with the rhythm or rate of heartbeat. The heart can beat fast, which is called tachycardia or it could be beating too slow, which is called bradycardia. Emery-Dreifuss muscular dystrophy is characterized by early onset of contractures and humeroperoneal distribution. Humeroperoneal refers to effects on the humerus and fibula. The genes known to be responsible for EDMD encode proteins associated with the nuclear envelope: the emerin and the lamins A and C.
According to ALS Association (2016, para. 1), “Motor neurons reach from the brain to the spinal cord and from the spinal cord to the muscles throughout the body. The progressive degeneration of the motor neurons in Amyotrophic Lateral Sclerosis eventually leads to their demise.” When our motor neurons die, our brain can no longer control our muscle movement. The survival time for a person living with Amyotrophic Lateral Sclerosis is up to ten years because eventually a person’s body will shut down completely. According to the Mayo Clinic (2016, para. 2), “As the disease advances and nerve cells are destroyed, your muscles progressively weaken. This eventually affects chewing, swallowing, speaking and breathing.” This disease is very scary to live with because you eventually die from
Muscular Dystrophy is a genetic disorder in which your muscles drastically weaken over time. Muscles are replaced with “connective tissue,” which is more of a fatty tissue than a muscular one. The connective tissue is the tissue that is commonly found in scars, and that same tissue is incapable of movement. Although Muscular Dystrophy affects muscles in general, other types affect certain groups of muscles, and happen at different periods throughout a lifetime. For example one of the most common types, Duchenne Muscular Dystrophy, targets muscles in the upper thigh and pelvis. The disease is displayed throughout early childhood, usually between ages four and seven. This genetic disorder occurs only in boys. People have difficulty sitting up or standing and lose their ability to walk in their early teens. Sadly most people die by the age of twenty. A second common type, Becker’s Muscular Dystrophy affects the same muscles as Duchenne, but first appears in teenage years. Most people with Becker’s only live into their forties (Fallon 1824-1825).
Body image has primarily been a problem for females. Recently, however, this view has opened up and has been seen in males. While women fixate on looking thin and slim, men’s obsessions are on the opposite spectrum, where guys want to be big, thick, and muscular. First known as "reverse anorexia", and now properly called muscle dysmorphia this obsessive compulsive disorder makes individuals believe that they are small and muscularly undeveloped and meanwhile they are moderately or highly muscular. This disorder is mostly seen in males and is rather unhealthy because it raises potential for self-esteem issues, steroid abuse, anti-social attitude, stress, over-meticulous diets and workout plans, and in worst case scenarios, suicide. In our society ideal body image for males has been put up to an impossible pedestal and the examples for the perfect physique are worsened by media causing this disorder to grow even further.
The first historical account of muscular dystrophy was identified by Sir Charles Bell in 1830. He wrote about a disease that caused weakness in boys that progressively got worse. In 1836 another scientist whose name is unknown reported about two brothers who developed muscle damage, generalized weakness. Also damaged muscle was replaced with fat and connective tissue. At the time the symptoms were thought to point to tuberculosis. During the 1850s reports of boys with progressive muscle weakness became more and more common. There were also reports of these boys losing the ability to walk and dying at an early age. In the next decade French neurologist Guillaume Duchenne gave and in depth account of 13 boys who had the most common ...
Amyotrophic lateral sclerosis, or ALS, is a degenerative disease affecting the human nervous system. It is a deadly disease that cripples and kills its victims due to a breakdown in the body’s motor neurons. Motor neurons are nerve cells in the brainstem and spinal cord that control muscle contractions. In ALS, these neurons deteriorate to a point that all movement, including breathing, halts. Muscle weakness first develops in the muscles of body parts distant from the brain, such as the hands, and subsequently spreads through other muscle groups closer to the brain. Such early symptoms as this, however, can hardly be noticed.
With motor neurone disease it attacks the nerves, in the brain and spinal cord. This means messages gradually stop reaching muscles, which leads to weakness and wasting. In the case study the
Scoliosis is a progressive disease. In its early stages a mild rotation and rib deformity is detected. As it progresses more vertebrae rotate, causing the ribs to crowd together on one side of the chest and to spread apart on the opposite side. The disease is usually first identified in persons 10 to 17 years old. Most cases occur in girls and become apparent during the rapid growth phase of puberty. Conditions also include shoulder unleveling, waistline discrepancies, acute headaches, shortness of breath, rib hump, chronic fatigue, and mood swings.
Approximately one in three thousand children are born with this disorder and it does not progress over time. There does not appear to be any precedence as to sex or race and it is developed at conception. There are several types of Arthrogryposis which include Amyoplasia, Distal, Classic, and Syndromic. According to the Shriners hospitals for children, Amyoplasia is an overall lack of muscular development and growth with contracture, a loss of joint motion, and deformity of most joints. Babies with this type have dense fibrous tissue and fat instead of skeletal muscle. Distal affects several joints usually in the hands and feet, and range of motion may be slightly limited. Classic usually affects the hands, wrists, elbows, shoulders, hips, feet and knees with different degrees of severity. The most severe case can affect almost joint ...
This is a neurodegenerative disease, meaning it results in progressive loss or death of neurons. It often starts off with effecting simple motor skills like writing and holding things, after a few months usually patients start losing the ability to walk, talk, or move any of their limbs. Although the brain trauma is what causes it, ALS has little-no-effect on the brain. This fatal disease is typically diagnosed around age 60 and most patients are given about 3-5 years to live after being diagnosed. It has been found that 10% of cases are shown as genetic. It was brought to attention that athletes were beginning to get diagnosed with ALS at a younger age than most. After extensive research in the early 2000’s, Brain Analyst, Dr. Mckee ran tests and finally came to the conclusion that the toxic proteins in the brains of ALS patients were coming from repeated blows to the head. It was then made evident why so many athletes in contact sports such as football, soccer, boxing, etc… were being diagnosed at such a young age and more frequently than