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  • membrane
  • The features that define a neuron are electrical excitability and the presence of synapses, which are complex membrane junctions that transmit signals to other cells. (wikipedia.org)
  • At the nerve ending in the neuromuscular junction, where the impulse is transferred to the muscle cell, the nerve impulse leads to the opening of voltage-gated calcium channels (VGCC), the influx of calcium ions into the nerve terminal, and the calcium-dependent triggering of synaptic vesicle fusion with plasma membrane. (wikipedia.org)
  • Mutations in this gene are associated with type II autosomal recessive Alport syndrome (hereditary glomerulonephropathy) and with familial benign hematuria (thin basement membrane disease). (wikipedia.org)
  • pathophysiology
  • This paper reviews the literature pertaining to the pathophysiology and applied pharmacology of the disease and explores the relationship between these and the anaesthetic management. (hindawi.com)
  • Anaesthetic management depends upon sound understanding of the pathophysiology of the disease process as well as the pharmacology of the neuromuscular junction. (hindawi.com)
  • presynaptic
  • A different condition, Lambert-Eaton myasthenic syndrome, is usually associated with presynaptic antibodies to the voltage-dependent calcium channel. (wikipedia.org)
  • They can affect either presynaptic mechanisms or postsynaptic mechanisms, preventing the junction from functioning normally. (wikipedia.org)
  • Inherited heterogeneous group of disease caused by genetic defects of the NMJ, which may be presynaptic, synaptic or postsynaptic. (educatehealth.ca)
  • Synaptic transmission at the neuromuscular junction begins when an action potential reaches the presynaptic terminal of a motor neuron, which activates voltage-dependent calcium channels to allow calcium ions to enter the neuron. (wikipedia.org)
  • It is the result of an autoimmune reaction in which antibodies are formed against presynaptic voltage-gated calcium channels, and likely other nerve terminal proteins, in the neuromuscular junction (the connection between nerves and the muscle that they supply). (wikipedia.org)
  • genetic
  • Neuromuscular junction diseases can be of genetic and autoimmune origin. (wikipedia.org)
  • For example, Charcot Marie Tooth (CMT), a genetic disease, actually consists of subtypes and can vary in symptoms. (bellaonline.com)
  • The mitochondrial myopathies are a group of genetic diseases that affect the mitochondria in the cells. (bellaonline.com)
  • Tetanus and botulism are bacterial infections in which bacterial toxins cause increased or decreased muscle tone, respectively.Muscular dystrophies, including Duchenne's and Becker's, are a large group of diseases, many of them hereditary or resulting from genetic mutations, where the muscle integrity is disrupted, they lead to progressive loss of strength and decreased life span. (wikipedia.org)
  • Genetic testing is an important part of diagnosing inherited neuromuscular conditions. (wikipedia.org)
  • Rarely, an inherited genetic defect in the neuromuscular junction results in a similar condition known as congenital myasthenia. (wikipedia.org)
  • people with MG without a tumor and people with LEMS without a tumor have similar genetic variations that seem to predispose them to these diseases. (wikipedia.org)
  • LRP4
  • The finding that an antibody to LRP4 is a cause of the most common disease affecting brain-muscle interaction helps explain why as many as 10 percent of patients have classic symptoms, like drooping eyelids and generalized muscle weakness, yet their blood provides no clue of the cause, said Dr. Lin Mei, Director of the Institute of Molecular Medicine and Genetics at the Medical College of Georgia at Georgia Regents University. (medindia.net)
  • When they gave healthy mice LRP4 antibodies, they experienced classic symptoms of the disease along with clear evidence of degradation of the neuromuscular junction. (medindia.net)
  • This is pretty exciting because it is a new form of the disease," Rivner said of the LRP4 finding. (medindia.net)
  • To learn more about the role of the LRP4 antibody, Mei now wants to know if there are defining characteristics of patients who have it, such as more severe disease or whether it's found more commonly in a certain age or sex. (medindia.net)
  • The finding that an antibody to LRP4 is a cause of the most common dis. (bio-medicine.org)
  • Symptoms
  • [ 7 ] Hence, patients who keep having strictly ocular symptoms for 3 or more years are unlikely to revert to the generalized aspect of the disease. (medscape.com)
  • About 50% of patients present solely with ocular symptoms, and about 50%-60% of these patients will progress to develop generalized disease. (medscape.com)
  • The nature and pattern of the symptoms and physical signs of neurological disease allow inferences to be drawn about the sites of the lesions causing them. (britannica.com)
  • Where fatigue and weakness are the symptoms, the underlying cause of disease may be a failure of motor nerve impulses to cross to the muscle end plate at the neuromuscular junction . (britannica.com)
  • Regardless of the specific cause, disease symptoms tend to respond well to therapy, which typically includes chronic use of drugs that suppress the immune response, Rivner said. (medindia.net)
  • However, because NMT mimics some symptoms of motor neuron disease (ALS) and other more severe diseases, which may be fatal, there can often be significant anxiety until a diagnosis is made. (wikipedia.org)
  • If the disease is associated with cancer, direct treatment of the cancer often relieves the symptoms of LEMS. (wikipedia.org)
  • The disease can only be diagnosed after the start of symptoms. (wikipedia.org)
  • In people who have been exposed to rabies, the rabies vaccine and sometimes rabies immunoglobulin are effective in preventing the disease if the person receives the treatment before the start of rabies symptoms. (wikipedia.org)
  • ocular
  • The test is approximately 90% positive for generalized MG, 50% positive for ocular MG, and a negative result does not rule out the possible diagnosis of MG. [ 7 ] In juvenile myasthenia, it is more common for children to not have a positive test (presence of antibodies) for the acetylcholine. (chiro.org)
  • Nonetheless, the definition of ocular MG proposed by consensus is based on any ocular muscle weakness attributed to MG at a specified point in time and not dependent on the duration of disease. (medscape.com)
  • Immunologic hypotheses proposes that there may be differences in the antibodies in ocular MG versus generalized MG that may favor the muscles responsible for eye movement and eyelid elevation. (wikipedia.org)
  • nerve impulses
  • In the myasthenic patient, the decreased efficiency of neuromuscular transmission combined with the normal rundown results in the activation of fewer and fewer muscle fibers by successive nerve impulses and hence increasing weakness, or myasthenic fatigue . (mhmedical.com)
  • muscles
  • MG may also involve other muscle groups (generalized MG). Although these blocking antibodies may be confined to one of the larger muscles responsible for moving the face or appendages or for breathing, about 90% of MG patients eventually have eye involvement. (wikipedia.org)
  • One symptom indicating muscular disease is weakness, usually symmetrical (that is, affecting both sides of the body) and mainly affecting the proximal or girdle muscles . (britannica.com)
  • Neuromuscular disease is a very broad term that encompasses many diseases and ailments that impair the functioning of the muscles, either directly, being pathologies of the voluntary muscle, or indirectly, being pathologies of nerves or neuromuscular junctions. (wikipedia.org)
  • Neuromuscular disease can also be diagnosed by testing the levels of various chemicals and antigens in the blood, and using electrodiagnostic medicine tests including electromyography (measuring electrical activity in muscles) and nerve conduction studies. (wikipedia.org)
  • In the advanced stages of the disease, weakness of the respiratory muscles may occur. (wikipedia.org)
  • Strabismus is caused by imbalances in the actions of muscles that rotate the eyes, and can sometimes be relieved by weakening a muscle that pulls too strongly, or pulls against one that has been weakened by disease or trauma. (wikipedia.org)
  • proteins
  • Her contributions are mainly on the roles of antibodies directed against ion channels, proteins complexed to ion channels, such as LGI1, CASPR2 and Contactin-2, within neurons, glia and the nerve-muscle junction in the pathogenesis of above-mentioned diseases. (wikipedia.org)
  • voltage-gated po
  • Some neuromyotonia cases do not only improve after plasma exchange but they may also have antibodies in their serum samples against voltage-gated potassium channels. (wikipedia.org)
  • patients
  • It can present significant challenges to the anaesthetist, not only because of the nature of the disease itself but also because of the treatment that patients may be on and the interaction of these treatments with many anaesthetic drugs. (hindawi.com)
  • In juvenile MG the thymus gland is often hyperplastic, and although the exact relationship between the gland and the disease remains obscure, certain patients are known to benefit from thymectomy [ 3 , 4 ]. (hindawi.com)
  • Currently, physicians like Rivner tell patients who lack antibody evidence that clinically they appear to have the disease. (medindia.net)
  • The disease still appears to result in an autoimmune loss of acetylcholine receptor activity, but the phenotype of these patients appears to be different from those of many other myasthenic patients: more likely women, less eye involvement, more likely to have weakness of neck and oropharynx, and more likely to be African-American in ethnicity. (wikipedia.org)
  • cause
  • New cause found for muscle-weakening disease myasthe. (bio-medicine.org)
  • She has demonstrated that transfer of these antibodies across the placenta from the pregnant woman to the fetus in utero can cause developmental abnormalities. (wikipedia.org)
  • therefore, it depends on the disease Other management routes for NMD should be based on medicinal and surgical procedures, again depending on the underlying cause. (wikipedia.org)
  • types E and F can cause disease in humans, while the other types cause disease in other animals. (wikipedia.org)
  • intestinal
  • Celiac disease (CD) is a chronic immune-mediated disorder triggered by the ingestion of gluten that appears in genetically predisposed patients The clinical spectrum of CD is wide and includes classic presentation of malabsorption with diarrhea, nonclassical extraintestinal features, subclinical or asymptomatic forms, and potential disease characterized by positive serology with a normal intestinal mucosa on biopsy [ 1 , 2 ]. (hindawi.com)
  • Moreover
  • Moreover, a significantly increased prevalence of other autoimmune diseases (AD) has been reported in individuals with CD and their first-degree relatives as compared to controls [ 3 - 7 ], with an estimated burden of AD in CD cases up to 15% [ 7 ]. (hindawi.com)
  • Moreover, these antibodies have been demonstrated to reduce potassium channel function in neuronal cell lines. (wikipedia.org)
  • Neuromyotonia
  • Some neuromyotonia cases do not only improve after plasma exchange but they may also have antibodies in their serum samples against voltage-gated potassium channels. (wikipedia.org)
  • dysfunction
  • Intellectual dysfunction observed in the human disease suggests a pivotal role of LAMP-2 within brain. (biomedcentral.com)
  • Our data contribute to the understanding of intellectual dysfunction observed in Danon disease patients and highlight the role of LAMP-2 within the central nervous system, particularly the hippocampus. (biomedcentral.com)
  • influences
  • The implementation of a gluten-free diet (GFD) improves the overall clinical course and influences the evolution of the associated diseases. (hindawi.com)
  • multiple sclerosis
  • ShK-192 is effective in ameliorating disease in rat models of multiple sclerosis. (wikipedia.org)
  • In proof-of-concept studies, ShK and its analogs have prevented and treated disease in rat models of multiple sclerosis, rheumatoid arthritis, and delayed type hypersensitivity. (wikipedia.org)
  • specific
  • This study also presents a unique opportunity to study both drug and disease mechanisms because unlike many other autoimmune diseases in which rituximab has been used, MG affords the investigation of antigen-specific components that participate in the immunopathology of the disease, namely autoantibodies, autoantibody-producing B cells, and antigen-specific T cells. (clinicaltrials.gov)
  • The neurologist or specialist may run a series of more specialized tests, including needle electromyography EMG/ and nerve conduction studies (NCS) (these are the most important tests), chest CT (to rule out paraneoplastic) and specific blood work looking for voltage-gated potassium channel antibodies, acetylcholine receptor antibody, and serum immunofixation, TSH, ANA ESR, EEG etc. (wikipedia.org)
  • However, it is not a very specific method, because other diseases share the same skin alterations with PDP, such as myxedema and hypothyroidism. (wikipedia.org)
  • chemical
  • Immunocytochemistry, which involves raising antibodies against targeted chemical or biological entities, includes a few other techniques of interest. (wikipedia.org)
  • treatment
  • This work will further our understanding of MG immunopathology and it represents the first step toward gaining a more complete understanding of the immune mechanisms underlying treatment of MG with rituximab leading to new ways to treat the disease. (clinicaltrials.gov)
  • In terms of treatment for neuromuscular diseases (NMD), exercise might be a way of managing them, as NMD individuals would gain muscle strength. (wikipedia.org)
  • complex
  • Despite cloning of the locus, the complex disease phenotype of DM has proven difficult to interpret, and the exact role of DMPK in the pathogenesis of DM remains unclear. (wikipedia.org)
  • studies
  • The known presence of several associated diseases provides guidance in the search of oligosymptomatic cases as well as studies performed in relatives of patients with CD. (hindawi.com)