Neuromuscular Junction Case Study

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.

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

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

MG may be difficult to diagnose and may not be determined for a couple of years. Reasons are as follows: the onset is gradual with the symptoms worsening over time, weakness and fatigue can also be signs and symptoms of other diseases, one or more of the voluntary muscle groups may experience weakness and with different degrees of severity, and also every patient may experiences the disease differently. After the medical history and physical examination, the physician may see a need for further muscle and neurological tests. Blood tests can detect abnormal antibodies. Nerve conduction studies and repetitive stimulation tests the nerve’s communication with the muscle. When stimulated a number of times the test will indicate muscle weakness. Single-fiber (EMG) electromyography is a test that measures the communication between the nerve and a muscle by inserting a small needle into a single muscle and recording the electrical muscle activity. CT scan or MRI may be ordered to check for

There are two ways to diagnose myotonic dystrophy; with molecular genetic testing or with non-genetic testing. Genetic testing is when the test for the amount of CTG repeats in the DMPK gene. Normal alleles have 5-34 repeats. Premutation alleles have 35-49 repeats, this means that the patients does not show symptoms but their children are at increased risk of inheriting a larger repeat size. Full penetrance alleles have more than 50 repeats. Non-genetic testing includes an electromyography (EMG), if a patient has myotonic dystrophy the doctors will see myotonic discharges and myopathic-appearing motor units. They can also test for serum CK concentration, which is elevated in affected patients. Another test they can do is a muscle biopsy, they would see rows of internal nuclei, ring fibers, sarcoplasmic masses, type 1 fiber predominance and atrophy, fibrosis and fatty infiltration and an increased number of intrafusal muscle fibers in affected

The symptoms are also effected by the age of the carrier. If an adult is experiencing muscle weakness especially in the leg, hand, neck, and face, and myotonia, which is uncontrollable contraction of muscles, they should be suspected of having DM1. If a newborn has hypotonia, facial muscle weakness, general weakness, positional malformations, or respiratory insufficiency, it should also be suspected of having DM1. Many testes are available to be able to determine if you have DM1. Some tests include electromyography, serum CK concentration, and a muscle biopsy. Checking allele sizes also help to determine whether or not you are positive for DM1. Unfortunately, since the disorder is rare, it is very difficult to predict a prognosis on it. “Non-molecular testing that has been used in the past to establish the diagnosis of DM1 currently has little role in diagnosis and is primarily used if molecular testing of DMPK does not identify the CTG repeat expansion and other myopathies are being considered.” (Thomas D. Bird).

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).

Multiple sclerosis is an autoimmune disease that majorly affects the brainand the spinal cord (A.D.A.M. Medical Encyclopedia, 1). The disease affects the central nervous system and thus causes limitations of individuals to carry out various activities. In multiple sclerosis, the myelin sheath that covers nerve cell axon is destroyed causing inflammation (MediResource Inc., 1). Destructionof the membrane leads to slowed conveyance of signals from the spinal cord to the brain, which as a result leads to reduced response to different stimuli. Inflammation of the nerve occurs mostly when the immune cells from the body attack the nervous system. The inflammation is not only limited to the spinal cord, but sometimes extends to

(What is MS?) “Myelin is the fatty substance that coats and protects nerve fibers” (Pierre). M.S is representing two different area of the disease, neuromuscular and autoimmune. Neuromuscular disorder is the aftermath of the autoimmune disease. The autoimmune disease uses the “powerful tools” of the immune system to create a double edge blade, causing the body to attack itself or as the body thinks to defend off unwanted invaders. Then the Neuromuscular disorder affects the nerves that control the voluntary muscles constricting many bodily functions. (what is autoimmunity/neuromuscular disorders) The treatments for both the disease/disorder have a wide array but there is no cure. The treatments were developed to treat the symptoms of M.S to enhance the patient’s quality of life. There are three areas of focus for the treatment of M.S that falls under pharmaceutical, physical therapy and dietary