Pathophysiology, Signs And Symptoms, And Treatment Of Myasthenia Gravis

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.

This disease affects the nerve cells by enabling them to send electric impulses to the muscles which ultimately makes the muscle wither away and stop working. The nerves targeted are actually

Autosomal dominant LGMD occur less often than recessive dominant LGMD. In the metabolism myotilin gene mutations occur, it may be due to a deficiency of vitamin B12, vitamin E, folate or exposures to nitrous oxide. LGMD 1A disease normally occurs from the age 42 to 77, and develops in the same areas (hip, shoulder and back) however, it could spread to the leg muscles. Due to the fact that myotilin gene is mutated, it causes focal myofibrillar destruction to occur, and this results in intracytoplasmic deposits to float around in the blood stream. In one case study done in Barcelona in 2011, there were 13 patients who were all diagnosed with myotilin gene mutation disease. The results showed that the deposits of myofibrillar became immune to myotilin and cluster up the vacuoles and interfere with the Z-lines. Overall the study revealed that each patient shared the same phenotypic characteristics, LGMD 1A and myofibrillar myopathy variations which emphasizes that LGMD is a developing neuromuscular disorder (Montse,

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

After one month and six months of treatment, the disease severity decreased from 6.9 ± 4.1 and 6.6 ± 5.0 respectively. 25% percent of the patients experienced an increase in the level of serum creatinine but this was brought back to normal after 6 months when a decrease in the dose of CsA was implemented after the first month. On the overall, CsA MEPC is a reliable way of reducing the severity of the range of symptoms present with MG. However, the scientists involved in this particular research article did mention that sample size was relatively small and that some differences could be present between ethnic populations concerning the efficacy of CsA. Rituximab is a genetically modified anti-CD20 monoclonal antibody which attaches with high affinity to cells displaying CD20 and induces the depletion of B-lymphocytes. The research study performed by Illa et al. required the use of 6 patients with severe MG, 3 patients with MuSK +MG and 3 with

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.

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.

Most of the time, AHC is caused by a genetic defect (mutation) in the ATP1A3 gene. This gene makes a protein that is needed for normal nerve and brain function. This mutation usually happens for the first time during conception (de novo mutation). It is not one that is passed down through families.

There appear to be two categories of the disease - the sporadic form which does not seem to be inherited and the non-sporadic or the familial form. For a long time the wide spread hypothesis had been that the causes were almost exclusively due to environmental factors, even though in many cases the exact environmental factor has not been pinpointed. However, in 1996 there was a breakthrough discovery which suggested that a genetic alteration is capable of causing

Autoimmune disease is a disease where the body’s immune system attacks and damages its own body tissues. The immune system may start producing antibodies that will attack its own body tissue instead of protecting and fighting infections in response to an unknown triggering mechanism. Multiple Sclerosis (MS) is a type of autoimmune disease in which the myelin sheath that covers axons and speeds up the transmission of nerve impulse in the brain is damaged or destroyed. The word Multiple refers to many areas and Sclerosis refers to the scar of the myelin sheath. The disease affects the central nervous system which are the brain and spinal cord. When the myelin sheath is damaged, nerves cannot conduct the electrical impulses efficiently.

With myopathies, some possibilities that could cause this disease to occur are metabolic disorders, adverse reactions to drugs, or autoimmune disorders (“Myopathy” 1). Multiple forms of myopathy can suggest that polymyositis might be genetic. To diagnose this disease in a person, the doctor will conduct blood tests, muscle and skin biopsy, electro-diagnostic tests, antibody testing. During blood test, the doctor will examine the blood for any increase of muscle enzymes. The muscle and skin biopsy will reveal any abnormalities such as damage, or inflammation in the sample. An MRI can allow the doctor to see any inflammation in the body (“Polymyositis (PM)” 1). Although there is no cure for this disease, its symptoms can be remedied with physical therapy to strengthen atrophied muscles and medication to suppress further inflammation in the muscles. Examples of medication are azathioprine and methotrexate which are types of immunosuppressant drugs (“Polymyositis (PM)” 1). A forty-three-year-old soul-jazz singer named William Downing suffered from this disease. He was interviewed by Jet Magazine about his illness and he described his life ever since he was drastically affected by

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

Guillain-Barre Syndrome, or acute inflammatory demyelinating polyneuropathy, is a self-limiting disease characterized by areflexia and acute progressive motor weakness of at least one limb. Other symptoms include motor weakness of the extremities and face, loss or reduction of deep tendon reflexes, decreased sensation throughout the body,ophthalmoplegia, and ataxia. In severe cases respiratory failure and autonomic dysfunction may occur. Respiratory failure results from the demyelination of the phrenic and intercostal nerves. Consequently, the person loses the ability to inhale and exhale. Autonomic dysfunction resulting from the demyelination of the sympathetic and vagus nerves can lead to cardiac arrhythmias,

The discovery of these disorders have expanded rapidly the neuroimmunology field, changing some of the paradigms for diagnosis, etiopathogeny, and treatment of different neuromuscular, autonomic and neuropsychiatry disorders. The first antibody against a neuronal protein that was associated with a human disease was the Acetylcholine receptor antibody discovered in 1973 in patients who had myasthenia gravis, a condition where patients had painless muscle weakness that worsens on exertion (Patrick and Lindstrom et, 1973). Until that

An international consensus guidance provides recommendations on the best standard practice for treating Myasthenia Gravis (Hughes, 2016). The recommendations were established to assist providers on best practices for treatment for Myasthenia Gravis. Myasthenia Gravis is rare and is not commonly seen very often in practices (Hughes, 2016).