What is myasthenia gravis?

Myasthenia gravis is a chronic autoimmune neuromuscular disease characterized by varying degrees of weakness of the skeletal (voluntary) muscles of the body. Th e name myasthenia gravis, which is Latin and Greek in origin, literally means "g rave muscle weakness." With current therapies, however, most cases of myasthenia gravis are not as "grave" as the name implies. In fact, for the majority of ind ividuals with myasthenia gravis, life expectancy is not lessened by the disorder . The hallmark of myasthenia gravis is muscle weakness that increases during perio ds of activity and improves after periods of rest. Certain muscles such as those that control eye and eyelid movement, facial expression, chewing, talking, and swallowing are often, but not always, involved in the disorder. The muscles that control breathing and neck and limb movements may also be affected. What causes myasthenia gravis? Myasthenia gravis is caused by a defect in the transmission of nerve impulses to muscles. It occurs when normal communication between the nerve and muscle is in terrupted at the neuromuscular junction - the place where nerve cells connect wi th the muscles they control. Normally when impulses travel down the nerve, the n erve endings release a neurotransmitter substance called acetylcholine. Acetylch oline travels through the neuromuscular junction and binds to acetylcholine rece ptors which are activated and generate a muscle contraction. In myasthenia gravis, antibodies block, alter, or destroy the receptors for acet ylcholine at the neuromuscular junction which prevents the muscle contraction fr om occurring. These antibodies are produced by the body's own immune system. Thu s, myasthenia gravis is an autoimmune disease because the immune system - which normally protects the body from foreign organisms - mistakenly attacks itself. What are the symptoms of myasthenia gravis? Although myasthenia gravis may affect any voluntary muscle, muscles that control eye and eyelid movement, facial expression, and swallowing are most frequently affected. The onset of the disorder may be sudden. Symptoms often are not immedi ately recognized as myasthenia gravis. In most cases, the first noticeable symptom is weakness of the eye muscles. In o thers, difficulty in swallowing and slurred speech may be the first signs. The d egree of muscle weakness involved in myasthenia gravis varies greatly among pati ents, ranging from a localized form, limited to eye muscles (ocular myasthenia), to a severe or generalized form in which many muscles - sometimes including tho se that control breathing - are affected. Symptoms, which vary in type and sever ity, may include a drooping of one or both eyelids (ptosis), blurred or double v ision (diplopia) due to weakness of the muscles that control eye movements, unst able or waddling gait, weakness in arms, hands, fingers, legs, and neck, a chang e in facial expression, difficulty in swallowing and shortness of breath, and im paired speech (dysarthria). How is myasthenia gravis diagnosed? Unfortunately, a delay in diagnosis of one or two years is not unusual in cases of myasthenia gravis. Because weakness is a common symptom of many other disorde rs, the diagnosis is often missed in people who experience mild weakness or in t hose individuals whose weakness is restricted to only a few muscles. The first steps of diagnosing myasthenia gravis include a review of the individu al's medical history, and physical and neurological examinations. The signs a ph

ysician must look for are impairment of eye movements or muscle weakness without any changes in the individual's ability to feel things. If the doctor suspects myasthenia gravis, several tests are available to confirm the diagnosis. A special blood test can detect the presence of immune molecules or acetylcholin e receptor antibodies. Most patients with myasthenia gravis have abnormally elev ated levels of these antibodies. However, antibodies may not be detected in pati ents with only ocular forms of the disease. Another test is called the edrophonium test. This approach requires the intraven ous administration of edrophonium chloride or Tensilon(r), a drug that blocks th e degradation (breakdown) of acetylcholine and temporarily increases the levels of acetylcholine at the neuromuscular junction. In people with myasthenia gravis involving the eye muscles, edrophonium chloride will briefly relieve weakness. Other methods to confirm the diagnosis include a version of nerve conduction stu dy which tests for specific muscle "fatigue" by repetitive nerve stimulation. Th is test records weakening muscle responses when the nerves are repetitively stim ulated. Repetitive stimulation of a nerve during a nerve conduction study may de monstrate decrements of the muscle action potential due to impaired nerve-to-mus cle transmission. A different test called single fiber electromyography (EMG), in which single mus cle fibers are stimulated by electrical impulses, can also detect impaired nerve -to-muscle transmission. EMG measures the electrical potential of muscle cells. Muscle fibers in myasthenia gravis, as well as other neuromuscular disorders, do not respond as well to repeated electrical stimulation compared to muscles from normal individuals. Computed tomography (CT) may be used to identify an abnorma l thymus gland or the presence of a thymoma. A special examination called pulmonary function testing - which measures breathi ng strength - helps to predict whether respiration may fail and lead to a myasth enic crisis. What is the prognosis? With treatment, the outlook for most patients with myasthenia gravis is bright: they will have significant improvement of their muscle weakness and they can exp ect to lead normal or nearly normal lives. Some cases of myasthenia gravis may g o into remission temporarily and muscle weakness may disappear completely so tha t medications can be discontinued. Stable, long-lasting complete remissions are the goal of thymectomy. In a few cases, the severe weakness of myasthenia gravis may cause a crisis (respiratory failure), which requires immediate emergency me dical care. (see above).

What causes myasthenia gravis? Myasthenia gravis is caused by a defect in the transmission of nerve impulses to muscles. It occurs when normal communication between the nerve and muscle is in terrupted at the neuromuscular junction - the place where nerve cells connect wi th the muscles they control. Normally when impulses travel down the nerve, the n erve endings release a neurotransmitter substance called acetylcholine. Acetylch oline travels through the neuromuscular junction and binds to acetylcholine rece ptors which are activated and generate a muscle contraction. In myasthenia gravis, antibodies block, alter, or destroy the receptors for acet

ylcholine at the neuromuscular junction which prevents the muscle contraction fr om occurring. These antibodies are produced by the body's own immune system. Thu s, myasthenia gravis is an autoimmune disease because the immune system - which normally protects the body from foreign organisms - mistakenly attacks itself.

Myasthenia Gravis Definition Myasthenia Gravis is a form of chronic autoimmune disorder resulting in progress ive skeletal muscle weakness. Myasthenia Gravis affects persons from all ethnic groups and both genders, although it commonly affects young adult women under th e age of forty years, and men over the age of sixty. Myasthenia Gravis can affec t persons of any age as well. On occasion, the disease can occur in members of t he same family, although the disease is not contagious or directly inherited. Myasthenia Gravis causes rapid fatigue and loss of strength in persons affected which improves once they have rested. In the early stages of the disease, the pe rson's muscles which control their eye movement, chewing, facial expressions, an d swallowing may be affected. Left untreated, the disease can affect the muscles the person uses to breath, resulting in acute respiratory failure. Muscles that control the person's limb movements may also be affected. Children with Neonatal Myasthenia may have acquired immune proteins from their m other who is affected with Myasthenia Gravis. Infants with Neonatal Myasthenia G ravis experience temporary symptoms that commonly disappear within about two or three months after they have been born. Other infants develop Myasthenia Gravis that is indistinguishable from that adults experience; the disease is common in juveniles. On rare occasion, children can show signs of either congenital myasth enic syndrome or congenital myasthenia. Neither of these are autoimmune disorder s; they are caused by defective genes which produce proteins in either acetylcho linesterase, or the acetylcholine receptor. Myasthenia Gravis affects about two out of every one-hundred thousand people. Ar

ound eighty-five to ninety-percent of those affected by this disease experience generalized Myasthenia Gravis; characterized by weakness in the legs, trunk and arms. Approximately ten to fifteen-percent experience weakness that only affects the control of their eye movements referred to as, 'Ocular Myasthenia Gravis.' Other forms of Myasthenia Gravis include Congential Myasthenia Gravis and Transi ent Neonatal Myasthenia Gravis. The majority of persons with Myasthenia Gravis d o not experience a shorter life expectancy because of the disease. Myasthenia Gravis Causes Myasthenia Gravis is caused by a malfunction of the person's immune system, alth ough the causative factor remains unknown. The disease may have a genetic link. Potential causes include a form of genetic defect, resulting in congenital Myast henia Gravis, and the circulation of maternal antibodies through the placenta, r esulting in transient neonatal Myasthenia Gravis. There is a neurotransmitter, r eferred to as, 'Acetylcholine (ACh),' which is involved in the transmission of i nformation to the person's muscle tissue. In this disease, cells that bind other cells to either neutralize or destroy them destroy acetylcholine receptor sites in areas of the person's muscle tissue that receive nerve impulses, preventing the nerve impulses from reaching the person's muscles. The result is an experien ce of weakness and rapid fatigue in the muscles affected. A person's thymus is an organ which produces cells that are involved in immune r esponses. The thymus is located below the larynx and above the heart. About fift een-percent of persons with Myasthenia Gravis have a tumor in their thymus, know n as a, 'Thymoma,' while sixty to eighty-percent experience an enlargement of th e thymus referred to as, 'Hyperplasia.' Persons with Myasthenia Gravis have anti bodies that block, alter, or destroy their receptors for acetylcholine at the ne uromuscular junction, preventing their muscles from contracting. Persons with Se ronegative Myasthenia Gravis have no antibodies at all to receptors for acetylch oline and muscle-specific kinase, something that is involved in cell signaling a nd information of the neuromuscular junction. A person's immune system usually p roduces these antibodies; person's with Myasthenia Gravis have an immune system that is attacking itself. Persons with other autoimmune diseases are also at an increased risk of Myasthenia Gravis. Myasthenia Gravis Symptoms Among the first symptoms that persons affected by this disease notice are weakne ss in their eye muscles, trouble swallowing, and difficulty with muscles control ling facial expressions. People often do not recognize symptoms of Myasthenia Gr avis immediately. Other people experience difficulty with slurred speech or trou ble with breathing; the disease can affect any voluntary muscle. Symptoms of Mya sthenia Gravis may also include: * * * * * * * * * Impaired speech Weak neck muscles Blurred or double vision Nasal-sounding speech Unstable or waddling gait A change in facial expression Drooping of one or both eyelids Weakness in arms, hands, fingers, legs, and neck Generalized weakness in the trunk, arms, and legs

A, 'Myasthenic Crisis,' is a medical emergency which develops when a person's mu scles that control their breathing become severely weakened, potentially leading to acute respiratory failure and the need for the use of a respirator in order to assist with breathing. Additional complications might include food aspiration , choking, or pneumonia. Complications can be triggered by illnesses such as a v

iral respiratory infection, corticosteroid use that is tapered too quickly, surg ery, pregnancy, overexertion, or emotional stress, or an adverse reaction to a m edication. Myasthenia Gravis Diagnosis Diagnosing Myasthenia Gravis begins with a review of the person's medical histor y, followed by both physical and neurological examinations. A doctor looks for i mpairment of the person's eye movements, or muscle weakness without any changes in their ability to feel things. If a potential for a diagnosis of Myasthenia Gr avis is suspected by the doctor, there are a number of tests that may be perform ed to confirm a diagnosis. Blood testing may detect immune molecules or acetylcholine receptor antibodies i n the person's bloodstream. The majority of persons with Myasthenia Gravis prese nt abnormally high levels of these antibodies in their blood. Persons with ocula r forms of the disease may not present antibodies in their bloodstream that are detectable by these tests. An, 'Edrophonium Test,' involves administration of intravenous edrophonium chlor ide, or, 'Tensilon,' a medication that blocks degradation of acetylcholine while temporarily increasing levels of acetycholine at the neuromuscular junction. In persons with Myasthenia Gravis who experience eye muscle involvement, edrophoni um chloride briefly relieves weakness. Another method of confirming a diagnosis of Myasthenia Gravis involves a version of nerve conduction study, during which tests for specific muscle fatigue through repetitive nerve stimulation are perfo rmed. The tests record weakening muscle responses when nerves are repetitively s timulated, with the goal of demonstrating decrements of the person's muscle acti on potential caused by impaired nerve-to-muscle transmission. Another form of test that may be used to confirm a diagnosis of Myasthenia Gravi s is called the, 'Single Fiber Electromyography (EMG),' test. The EMG tests sing le muscle fibers by stimulating them with electrical impulses, potentially detec ting impaired nerve-to-muscle transmission. The EMG tests measures the electrica l potential of the person's muscle cells. Persons with Myasthenia Gravis have mu scle fibers that do not respond as well to repetitive electrical stimulation as the muscles of person's who are not affected by the disease. A CT scan can be used to identify abnormalities in a person's thymus gland, incl uding the presence of a thymoma. There is also an examination referred to as, 'P ulmonary Function Testing,' that measures a person's breathing strength that may be ordered. The test assists in predicting whether the person being tested has respiration that could fail, leading to a Myasthenic Crisis. Many times, a delay in receiving a diagnosis of Myasthenia Gravis of one or two years is not unusual. Weakness is a symptom of several other disorders; a diagno sis of Myasthenia Gravis is often missed in persons with mild weakness, or in pe rsons who experience weakness in only a few muscles. The process of diagnosing t his disease can take time. Myasthenia Gravis Treatment When it comes to neuromuscular disorders, Mysathenia Gravis is one of the most t reatable ones. Treatment of the disease depends on a number of factors, to inclu de the person's overall health, their age, the severity of the disease, and the rate at which it is progressing. There are a number of medications that can be u sed to treat Myasthenia Gravis. These medications include: Anticholinesterase Medications: Neostigmine, Pyridotigmine prevent ACh destructi on while increasing accumulation of ACh at neuromuscular junctions, improving th

e ability of muscles to contract. Corticosteroids: Prednisone suppresses antibodies that block AChR at the neuromu scular junction. May be used with Anticholinesterase. Chorticosteroids can impro ve the person's symptoms within a few weeks. Once the person's symptoms stabiliz e, the dose is gradually decreased. Immunosuppressants: Azathioprine, Cyclophosphamide used to treat generalized Mya stheia Gravis if other medications fail to relieve symptoms. These medications m ay cause severe side-effects such as a low white blood cell count, nausea, liver dysfunction, vomiting, and hair loss. Immunosuppressants are not used to treat congenital Myasthenia Gravis because this form of the disease is not the result of an immune system malfunction. Additional forms of treatment for Myasthenia Gravis may include, 'Plasmapheresis ,' - the exchange of plasma, to modify the person's immune system malfunction. P lasmapheresis can be used to treat a severe worsening of symptoms that is experi enced by the person affected, as well as in preparation for surgery such as a Th ymectomy, which involves removal of the person's thyroid. During Plasmapherisis, the person's blood is removed from their body and their blood cells are separat ed from the liquid portion of their blood. The AChR antibodies are removed, thei r blood cells are diluted with artificial plasma, and infused back into their bo dy. Commonly, two to three liters of plasma is removed and replaced during treat ment, requiring several hours of time. The majority of person's receiving Plasma pheresis undergo a number of sessions over a period of two or more weeks, improv ing the symptoms they experience in association with Myasthenia Gravis for six t o eight weeks. The risks involved with this procedure include dizziness, low blo od pressure, blurred vision, as well as the potential for the formation of blood clots. A, 'Thymectomy,' is a surgical procedure involving the removal of the person's t hymus gland with the goal of reducing symptoms of Myasthenia Gravis. In more tha n seventy-percent of persons without thymoma the procedure may cure the individu al, as well as potentially re-balancing their immune system. Persons with a diagnosis of Myasthenia Gravis who receive treatment for the dise ase can expect significant improvement related to symptoms of muscle weakness, a s well as expecting to lead productive lives. Some person's with Myasthenia Grav is experience temporary remission of the disease, with muscle weakness that disa ppears completely to the point where medications may be discontinued. The goal o f surgical thymectomy is long-lasting and complete remission. Read more: http://www.disabled-world.com/health/autoimmunediseases/myasthenia-gr avis.php#ixzz1Vujny041