Introduction The neuromuscular junction (NMJ) is a specialized communication synaptic area where an electrical nerve impulse is converted into an electrical stimulation, and once this process is executed, a muscle contraction is generated (Boron, Boulpaep, & Mocydiowski, 2012, p. 216). Lamentably, there are autoimmune disorders that disrupt the function of the NMJ leading to various neuromuscular disorders. In this midterm assignment, I will be presenting a rare autoimmune disease that alters the function of the NMJ resulting in a condition known as Myasthenia Gravis (MG). MG is an incessant autoimmune neuromuscular disease identified by fluctuating periods of a weakness of the skeletal muscles of the body. The National Institute of Neurological …show more content…
Nonetheless, Angelini (2011, p. 5) illustrated the following physical and laboratory testing to solidify the diagnosis of MG: First is pharmacological testing using a drug Edrophonium which is an acetylcholinesterase inhibitor that improves MG related weakness, followed by serological testing to check the presence of antibody associated with MG (Seronegative or seropositive MG), followed by electrophysiological testing to assay the muscle depolarization response, for MG patient's, this reaction is altered and reduced. And finally, using an imaging studies. As indicated by Sathasivam (2014, p. 10), all MG patients will need an imaging studies of the thorax to investigate for thymoma (tumor of the thymus gland) or thymic hyperplasia. Furthermore, the researcher suggested that imaging of the mediastinum should be reassessed in the setting of an MG deterioration following a period of dormancy of the disease since the possibility of thymoma may occur near the latter part of the condition. Nasseri & Eftekhari (2010, p. 413) describes the appearances of thymus on various imaging modalities. On a frontal chest x-ray of young child (Figure 1), the thymus is notably significant but difficult to see due
Myasthenia gravis [MG] is a rare, autoimmune neuromuscular disorder. The incidence rates has been reported as 2-7/10000 in central and western Virginia ( Thanvi ,2004).The onset of [MG] is depends on age and gender .In patients younger than 40 years, women are more susceptible than man to [MG],with a ratio of 7:3 :Above the age 50 [MG] are slightly more common in men with a ratio 3:2.Myasthenia gravis are very rare in children.Juvinile [MG] is an autoimmune disorder ,while congenital [MG] results from genetic mutations that impair neuromuscular transmission. It has been suggested that incidence of [MG] falls after 70 years of age. A recent study using AChR antibody as a diagnostic
Neuromyotonia is an extremely unusual disorder, where impulsive motor unit are constantly firing and activating the muscle fibers. Neuromyotonia has several symptoms but the most common ones are muscle pains and twitching. The condition affects the voltage-gated potassium channels, by reducing the number of voltage gated potassium-complex resulting in prolonged depolarization of the motor nerve terminal and excessive acetylcholine release. Treatment depends on the varying symptoms from person to person but usually people are prescribed with medication or undergo a plasma exchange.
Guillain-Barre Syndrome (GBS) is a rare autoimmune disease. This is where an individual’s own immune system attacks and destroy healthy body tissue. The exact cause of this syndrome is unknown. However, once triggered the immune system begins to attack the myelin sheath in the brain, particularly, your peripheral nervous system (PNS). The PNS connects the brain and spinal cord (central nervous system – CNS) to the rest of the body. The myelin sheath main function is to ensure fast propagation of nerve impulses. When damaged it can often result in muscle weakness or paralysis.
Myasthenia gravis is a disease that affects voluntary muscles of the body; it causes the weakening of the muscles. In this essay we will talk about how to treat myasthenia gravis, the symptoms and causes
Myotonic Muscular Dystrophy, abbreviated MMD, is a disease that affects the muscles and organs of a body. To break Myotonic Muscular Dystrophy down, the word myotonic is the adjective for myotonia, which is an inability to relax muscles at will. Muscular dystrophy means the gradual muscle degeneration, which weakens and shrinks muscle tissue. Knowing the breakdown of MMD, this disease summed up means a person is restricted to relax their muscles at their own will whenever they would like ("Overview Myotonic Muscular Dystrophy"). MMD is also known as "Steinert Disease", which was named after a German doctor who first described the disorder in 1909 ("Facts About Myotonic Muscular Dystrophy").
JG, a 34-year old Caucasian female presented to the primary care physician office with complaints of losing weight and feelings that "her heart is beating out of her chest". On assessment it was noted that JG had lost twenty pounds in 3 months. JG exhibited tremors in hands, bulging eyes, and pretibial edema. On physical examination there was a goiter, or enlarged thyroid gland noted.
Our body has three muscle types, skeletal muscle , cardiac muscle, and smooth muscle. Each muscle has different functions within the body. Cardiac muscle is located in the heart and is responsible for pumping blood within the heart. Cardiac muscle is one of the two muscles with an activity that is non-voluntary meaning that signal from the motor neuron is not required for blood to pump through the heart. The second type of muscle is smooth muscle which is located in the intestines and responsible for moving food and regulating blood pressure(Freeman, 2011). Like cardiac muscle, smooth muscle also requires non-voluntary activity, where the signal from the motor neurons is not required for it to function properly. Lastly, the most important muscle in the neuromuscular junction, skeletal muscles. Skeletal muscle is attached to the bones through tendons composed of connective tissue and is responsible for moving the skeleton, however unlike the other two muscle types, skeletal muscle requires voluntary activity meaning that signal from the motor neurons is required (Ritchison, 2016). In this paper, I will be discussing the functions and parts of the neuromuscular
My group presentation was over myasthenia gravis. Myasthenia gravis (MG) is a neuromuscular auto-immune disease that is characterized by fatigable weakness in the skeletal muscles. This occurs at the neuromuscular junction, in which acetylcholine that is being released by the pre-synaptic neuron attaches to receptors at the post-synaptic neuron in order to generate a muscle contraction. Basically the body produces antibodies that block, alter, or destroy these receptors thus halting motor neurons from signaling the muscles to contract. It is currently unknown why the body makes these antibodies. There are a multitude of ways of treating MG these include anticholinesterase, steroid, and immunosuppressant medicines. In my paper, I will focus on the most long-term solution of thymectomy by first giving an overview of characteristics of the surgery, then contrasting open thymectomy (trans-sternal and trans-cervical) and video-assisted thoracic surgery (VATS), and finally focusing on the overall effectiveness of the surgery.
Some symptoms of Myasthenia gravis can be having droopy eyes, double vision, partial paralysis of eye movement, problems in jaw and/or chewing something, and fatigue in the neck. Some causes for this disease are unclear but the researchers are saying that maybe the viruses and bacteria are the ones triggering the autoimmune response in the body. They also think that the thymus gland might play a role in this forming of the disease. Some risk factors would be getting the Myasthenia gravis when a family member suffered from rheumatoid arthritis, scleroderma, and lupus may have a more increased rate of getting the disease. A diagnosis procedure will include a check up with a neurologist and have a physical exam with him or her. They will see how weak one is. One will also do a blood test to detect the amount of antibodies one has in their body and seeing if they have a positive result or a negative result. Positive result is a confirmation of being diagnosed with Myasthenia gravis. If one gets a negative, that person will go through electro diagnostictesting to measure the amount of electrical signals one has in their muscle. Then he or she will go through MRI scans along with a CT scan and doing a chest
Myasthenia Gravis affects the neuromuscular junction. Neuromuscular junction is the connection or meeting place of the nerve and a muscle fiber. The nerves communicate with the muscle fiber by telling it to move or contract. The nerves
Myotonic Dystrophy is the most common form of muscular dystrophy. It is a chronic, multi-system disorder that is characterized by progressive muscle wasting and weakness. Symptoms include; myotonia (prolonged muscle contractions), the inability to relax certain muscles after use, slurred speech, temporary locking of jaw, cataracts, abnormalities of the electrical signals that control the heartbeat, and early balding and infertility in men. There are two major types of myotonic dystrophy, type 1 and type 2. Many of the symptoms are overlapping, the only differences are type 1 is generally more severe than type 2 and type 1 affects the lower legs, hands, neck and face. Whereas, type 2 affects the neck, shoulders, elbows, and hips. Myotonic dystrophy
Damage to the neuromuscular junctions is due to an autoimmune disease called myasthenia graves. The motor end plates, which are located on skeletal muscles, are affected because there is a decrease in the amount of Ach receptors located on the motor end plate, which is connected to the neuromuscular junction. The decrease is due to the unnecessary production of antibodies, which bind to the motor end plate. This prevents Ach from binding to the receptors to carry out a synapse between the skeletal muscle and a neuron, leading to a stop or weakening of muscle contraction. The decrease in the amounts of synapses cause the skeletal muscle to lose function, become weaker, and tire more easily.
Current research suggests that trigger points are caused by a dysfunction in the nerves that signal the muscles to contract (Simons, Travell, & Simons 1999). When the neural activity becomes unsynchronized, it can cause muscles to contract without relaxing (Simons et al. 1999; Ge, Fernandez-de-las-Penas, & Yue 2011). This constant contraction results in a trigger point, which restricts blood flow to the taut muscle area and causes both localized and referred pain (Ge et al. 2011). Researchers theorize that DN interferes with the malfunctioning nerve signals and resets them to their normal function (Simons et al. 1999; Giamberardino, Affaitati, Fabrizio, & Costantini 2011).
Aim of the study: the aim is to evaluate the role of MRI and find the most common findings in the early stages of the disease, which could provide the knowledge to help finding a higher quality care or even a cure to the disease.
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).