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Essay on spinal muscular atrophy
Essay on spinal muscular atrophy
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What is Spinal Muscular Atrophy?
Spinal Muscular Atrophy is a disease that can destroy the “lower motor neurons in the nerve cells” (Spinal Muscular Atrophy, 2015). Spinal Muscular Atrophy affects the spinal cord that controls our everyday movement. These cells send out processes in the peripheral nerve to eventually make contact to our muscle, legs, arms, chest, breathing muscles. SMA is a very rare disease but it is the second most common recessive disease after cystic fibrosis. It is a very serious condition that has become a common genetic cause of death in infancy. This disease can influence our movement of our muscle and the ability to weaken our control movement, in this case the signal from our spine eventually will be lost. Refer to Figure 1 for a better understanding. If our motor neurons weakens or dies, it no longer sends the signal to our muscle movement, therefore cutting off any trace of signal between the muscle and the brain.
Figure 1:
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The motor neurons send a long process from the spinal cord to the muscle. Refer to Figure 2. The motor neurons then send the electrical impulse to the muscle, therefore allowing the muscle to contract. In order for a normal physical movement to happen, this process must be able to compromise for the movement to be able to happen. This could either be a simple as walking, standing, sitting or writing. Spinal muscular atrophy has the ability or the lack of ability to receive this impulse thus creating the problem of achieving the basic everyday activity. The phenotype of the spinal muscular atrophy can be categorized by the achievement between the small movements of basic activity, this can either be recognized from sitting down to standing up, or laying down to standing up, etc. This can help tell which feature of the spinal muscular atrophy an individual belongs to. There are 3 types of Spinal Muscular Atrophy, they are listed
In the beginning phases of muscle contraction, a “cocked” motor neuron in the spinal cord is activated to form a neuromuscular junction with each muscle fiber when it begins branching out to each cell. An action potential is passed down the nerve, releasing calcium, which simultaneously stimulates the release of acetylcholine onto the sarcolemma. As long as calcium and ATP are present, the contraction will continue. Acetylcholine then initiates the resting potential’s change under the motor end plate, stimulates the action potential, and passes along both directions on the surface of the muscle fiber. Sodium ions rush into the cell through the open channels to depolarize the sarcolemma. The depolarization spreads. The potassium channels open while the sodium channels close off, which repolarizes the entire cell. The action potential is dispersed throughout the cell through the transverse tubule, causing the sarcoplasmic reticulum to release
1. James suffers from a condition called Duchenne muscular dystrophy. Explain the full meaning of this name.
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.
The overview definition of Amyotrophic lateral sclerosis is defined in the Medical Dictionary for Allied Health as a “progressive degenerative disease of the lateral columns of the spinal cord leading to weakness paralysis and death (Breskin, 2008).” This definition is brief but by looking at this one helps to better define the disease, which follows. ALS is also known as Lou Gehrig disease the progressive destruction is of the motor neuron this results in muscular atrophy. The nerve cells effected are from the brain to the spinal cord and the spinal cord to the peripheral these are the nerves that control muscle movement. ALS affects muscles that are controlled by conscious thought, this includes arms, legs, and trunk muscles. ALS leaves sensation, thought processes, the heart muscle, digestive system, bladder, and other internal organs unaffected.
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).
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
“Dystrophy,” originally coming from the Greek “dys,” which means “difficult” or “faulty, and “trophe,” meaning “nourishment” holds the interpretation “poor nutrition.” Today we know poor nutrition is not the cause of Muscular Dystrophy (“Myotonic Dystrophy”). Muscular Dystrophy is a genetic disorder that affects between 500-600 newborns each year in the US (Statistics on Muscular Dystrophy). In general, this disorder weakens your skeletal muscles, and eventually they degenerate. Muscular Dystrophy also has several specific types within the disorder, such as: Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, and Myotonic Dystrophy. Each one has their own specific characteristics.
The most common types of topographical types are diplegia, hemiplegia, double hemiplegia, and quadriplegia. The basal ganglia are part of the extrapyramidal system and work in conjunction with the motor cortex in providing movement and serve as the relay center. Damage to this area results in Athetoid Cerebral Palsy, the second most common form of cerebral palsy. Involuntary, purposeless movements, particularly in the arms, hands, and facial muscles, characterize athetosis. In addition, the individual can become “stuck” in abnormal positions or postures and require specific positioning to maintain normal tone and movement.
It is estimated that 1 out of every 5,600-7,700 boys ages 5-24 have Duchene or Becker muscular dystrophy. (“Data & Statistics,” 2012 April 6) Muscular dystrophy is a group of genetic diseases defined by muscle fibers that are unusually susceptible to damage. There are several different types of muscular dystrophy some of which shorten the affected person’s lifespan. (“Muscular dystrophy: Types and Causes of each form,” n.d.) There is a long history of the disorder but until recently there wasn’t much knowledge of the cause. (“Muscular Dystrophy: Hope through Research,” 16 April 2014) Symptoms are obvious and can be seen as soon as a child starts walking. (“Muscular Dystrophy,” 2012 January 19) Although muscular dystrophy mostly affects boys, girls can get it too. (“Muscular Dystrophy,” 2012 January 19) There is no cure for muscular dystrophy but there are several types of therapy and most types of muscular dystrophy are still fatal. (“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.
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
The spinal cord is a major channel in the body where motor and sensory information travels from the brain to the body. It has white matter that surrounds a central gray matter. The gray matter is where most of the neuronal cells are located. Injury to the spinal cord will affect the conduction of information across any part of the spinal cord where the damage is located (Maynard et al., 1997). This will often result in permanent disability of a certain muscle or region of the body (Meletis et al., 2008) and a loss of tissue where the damage is located (Peng et al., 2009). As of now, there is no treatment for spinal cord injury expect for steroids. All steroids can do is provide protect of the spinal cord from secondary injury for specific patients (Peng et al., 2009).
Therefore, although the role of SMN protein in motor neurons is not completely understood and the amount for normal functioning undefined, the phenotype of spinal muscular atrophy (type I, II, III, or IV) is largely related to the number of SMN2 gene copies present. The number of copies of SMN2 in individuals diagnosed with SMA has been found to negatively correlate with disease severity. For instance, infants diagnosed with SMA type I, are likely to have two copies or less of SMN2 and individuals with SMA type III and IV are likely to have three copies or more (Mailman, et al., 2002)
Multiple sclerosis (MS) is an acquired demyelinating disease of the central nervous system (CNS) that typically is diagnosed in the second or third decade of life. Normally, nerves are enclosed in myelin sheaths that help facilitate transmission of nerve impulses within the CNS and the peripheral nervous system throughout the body. In patients with MS, the myelin sheath is damaged and eventually degenerates, causing patches of scar tissue called plaques or lesions to occur anywhere randomly on the myelin sheath (Ruto, 2013). This results in impaired nerve conductivity, which interferes with message transmission between the brain and the other parts of the body. As a result, impulse transmission is altered, distorted, short-circuited, or completely absent. This interference in impulse transmission creates muscle weakness, muscle imbalance, and possibly muscle spasms with partial or complete paralysis. Multiple sclerosis also can result in visual impairment and alteration of cognitive abilities, as well as pain, numbness, or tingling sensations (Ruto, 2013).