Spinal Muscular Atrophy, also known as “SMA” is a genetic and also a motor neuron disease that affects the area of the nervous system that controls your voluntary muscle movements such as walking, crawling, and swallowing. When someone acquires this condition their muscles start to shrink as a cause to the muscles not receiving signals from the nerve cells in the spine that control function. Spinal Muscular Atrophy is a rare but serious condition.
Spinal Muscular Atrophy affects about 8 out of every 100,000 live births and also causes death among more babies than any other genetic disease out there. About one in every forty people has this gene in them but may not have SMA so they are a genetic carrier. But in order for a child to have SMA, both parents have to carry the mutated gene and passed it to the child. Therefore this causes the child to have double copies of the abnormal gene. About 1 in 40 men and 1 in 80 women are carriers of the gene.
Survival Motor Neurons are a protein that is produced by the survival motor neuron gene 1. The SMN protein is found all over the body, especially containing high levels in the spinal cord. This protein is important for maintaining specialized nerve cells called motor neurons that are located in the spinal cord and brainstem. When a person have An abnormal or missing SMN1 it causes serious problems due to the fact it isn’t receiving the proper communication from these cells resulting in nerve cells shrinking and over time dying.
SMA is broken down into having four types. In order to determine the type you have is based on the physical achievement because each person is different. SMA is not a progressive disease, although over time people with this lose ability to coordinate due ...
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...can see if this condition runs in the family. A physical examination is a good way to tell is there is any type of muscle weakness or spinal curvature.
Treatment for Spinal Muscular Atrophy is currently unavailable to correct this condition. But a person can take other steps to try to help comfort the situation they are in but there is no stopping it. Physical therapy is important because it can help work the muscle to prevent contraction of them. Breathing machines are an important to have because a lot of trouble falls under the breathing when the weakness of these muscles occurs.
In conclusion there are a lot of conditions to be aware of that people don’t really think of. It is important to take precautions and pay attention to symptoms and conditions are body shows us. And get educated about different disease out there to protect our families and ourselves.
...hromosome and the disease/disorder is passed down in an X linked recessive fashion. Symptoms include muscle weakening and wasting, and pain in the lower body. Mostly only the lower body’s muscles are affected causing the child to have to be confined to a wheelchair. The best way to diagnose Duchenne Muscular Dystrophy is by doing a muscle biopsy to test for abnormal dystrophin levels. There is no treatment for the disease/disorder itself, but only for the symptoms of it. The average age of death in males with Duchenne Muscular Dystrophy is the late thirty’s. Most deaths are caused by breathing complications or heart problems like cardiomyopathy. Duchenne Muscular Dystrophy on average affects one in thirty five hundred male births worldwide. Overall, Duchenne Muscular Dystrophy is very hard to live with and affects many boys around the world.
"Duchenne Muscular Dystrophy: MedlinePlus Medical Encyclopedia." U.S National Library of Medicine. U.S. National Library of Medicine. Web. 20 May 2014.
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
As motor neurons degenerate, this obviously means they can no longer send impulses to the muscle fibers that otherwise normally result in muscle movement. Early symptoms of ALS often include increasing muscle weakness, especially involving the arms and legs, speech, swallowing or breathing. When muscles no longer receive the messages from the motor neurons that they require to function, the muscles begin to atrophy (become smaller). Limbs begin to look thinner as muscle tissue atrophies (Choi, 1988).
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).
Amyotrophic Lateral Sclerosis is also referred to as a motor neuron disorder (MND), as it is characterized by the continual degeneration of upper and lower motor neurons. These motor neurons, as previously stated, are responsible for voluntary muscles in the body, and as the neurons degenerate, or die, the neurons are unable to send messages to the muscles. When muscles can no longer receive signals, they become unable to function, and in turn, weaken and waste away. Eventually, the brain loses its ability to start and control voluntary movement, resulting in paralysis.
Muscular dystrophy is a complex disease that has been around for many years. Although it was discovered in the 1830s there is constant discoveries about the disorder. (“New knowledge about Muscular dystrophy,” 2014 May 5) There are several research studies being done around the world to help find a cure. Here’s to hoping that a cure will be found and no more lives will be taken by this debilitating disease (“Muscular Dystrophy: Hope through Research,” 16 April 2014)
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.
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.
Amyotrophic Lateral Sclerosis is a disease that everyone should fear. Once the disease is in your body, there is no found cure but riluzole therapy is something that may extend life expectancy. Odds are for every 100,000 years, 2 people acquire the disease, with the majority being of the male sex. “Most people who develop Amyotrophic Lateral Sclerosis are between the ages of 40 and 75, with the majority after age 60, although it can occur at a younger age.” Amyotrophic Lateral Sclerosis may still be developed at a young age but it is very rare. Stephen William Hawking turns out to be a very rare man. http://www.alscenter.org/living_with_als/facts_statistics.html
A-myo-trophic comes from the Greek language. "A" means no. "Myo" refers to muscle, and "Trophic" means nourishment – "No muscle nourishment." When a muscle has no nourishment, it "atrophies" or wastes away. "Lateral" identifies the areas in a person's spinal cord where portions of the nerve cells that signal and control the muscles are located. As this area degenerates it leads to scarring or hardening ("sclerosis") in the region (ALS 1).
Multiple sclerosis is a disease that causes demyelination (disruption of the myelin that insulates and protects nerve cells) of spinal nerve and brain cells (Luzzio & Talavera, 2017). MS occurs when the immune system attacks a fatty material called myelin. Myelin is a sheath-like material that forms a cover and protects nerve fibers. A nerve fiber is a threadlike extension of a nerve cell and essentially consists of an axon and in some cases a myelin sheath. Axon transfers electrical impulse from the cell body to neurons. Myelin is designed to protect axons. When myelin is damaged, demyelination occurs, which leads to nerve dysfunction and slowed or blocked nerve communication between the brain and the rest of the body. The s/s of MS in my
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
Definition: Spinal Muscular Atrophy (SMA) Types I, II, and III belong to a group of hereditary diseases that cause weakness and wasting of the voluntary muscles in the arms and legs of infants and children. The disorders are caused by an abnormal or missing gene known as the survival motor neuron gene 1 (SMN1)
However, it can be developed also in guys after becoming sexually mature. During growth spurts, idiopathic scoliosis signs are shown as part of the body would be not level and the squashing of the ribs may cause problems in inhalation if it is severe. Management will be done depending on the adolescent spine turning is mild, moderate or severe. Pediatric Association Orthopedic Society of North America and the Scoliosis Research Society clarifies that if the vertebral turn is among 25° and 45° the child would be suggested by a doctor to attire a brace ( Idiopathic Scoliosis in Children and Adolescents [ISCA-AAOS],2015,pg.4). However, age is important as if it is severe more severe insurances may be taken into consideration. Pediatric Association Orthopedic Society of North and the Scoliosis Society also be certain of that there is no scientific explanation for the formation of idiopathic scoliosis but they clarified that children wearing heavy equipment on their backs does not had anything to do with the curvature of the spine in idiopathic scoliosis. (ISCA-AAOS, pg.2).However they do believe there is a gene that possibly associated with idiopathic scoliosis malformation. Therefore, further studies had been in progress if there are other genes that can be found in scoliosis.