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Congenital Myasthenia
Congenital myasthenic syndrome (CMS) is an inherited neuromuscular disorder caused by defects of several types at the neuromuscular junction. The effects of the disease are similar to Lambert-Eaton Syndrome and myasthenia gravis, the difference being that CMS is not an autoimmune disorder. There are only 600 known family cases of this disorder and it is estimated that its overall frequency in the human population is 1 in 200,000. Types The types of CMS are classified into three categories: presynaptic, postsynaptic, and synaptic. * ''Presynaptic'' symptoms include brief stops in breathing, weakness of the eye, mouth, and throat muscles. These symptoms often result in double vision and difficulty chewing and swallowing. * ''Postsynaptic'' symptoms in infants include severe muscle weakness, feeding and respiratory problems, and delays in the ability to sit, crawl, and walk. * ''Synaptic'' symptoms include early childhood feeding and respiratory problems, reduced mobility, curvat ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Myasthenia Gravis
Myasthenia gravis (MG) is a long-term neuromuscular junction disease that leads to varying degrees of skeletal muscle weakness. The most commonly affected muscles are those of the eyes, face, and swallowing. It can result in double vision, drooping eyelids, and difficulties in talking and walking. Onset can be sudden. Those affected often have a large thymus or develop a thymoma. Myasthenia gravis is an autoimmune disease of the neuromuscular junction which results from antibodies that block or destroy nicotinic acetylcholine receptors (AChR) at the junction between the nerve and muscle. This prevents nerve impulses from triggering muscle contractions. Most cases are due to immunoglobulin G1 (IgG1) and IgG3 antibodies that attack AChR in the postsynaptic membrane, causing complement-mediated damage and muscle weakness. Rarely, an inherited genetic defect in the neuromuscular junction results in a similar condition known as congenital myasthenia. Babies of mothers wi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dok-7
Dok-7 is a non-catalytic cytoplasmic adaptor protein that is expressed specifically in muscle and is essential for the formation of neuromuscular synapses. Further, Dok-7 contains pleckstrin homology (PH) and phosphotyrosine-binding (PTB) domains that are critical for Dok-7 function. Finally, mutations in Dok-7 are commonly found in patients with limb-girdle congenital myasthenia. Dok-7 regulates neuromuscular synapse formation by activating MuSK The formation of neuromuscular synapses requires the muscle-specific receptor tyrosine kinase (MuSK). In mice genetically mutant for MuSK, acetylcholine receptors (AChRs) fail to cluster and motor neurons fail to differentiate. Because Dok-7 mutant mice are indistinguishable from MuSK mutant mice, these observations suggest Dok-7 might regulate MuSK activation. Indeed, Dok-7 binds phosphorylated MuSK and activates MuSK in purified protein preparations and in muscle in-vivo by transgenic overexpression. Furthermore, the nerve-derived orga ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Disorder
A birth defect is an abnormal condition that is present at childbirth, birth, regardless of its cause. Birth defects may result in disability, disabilities that may be physical disability, physical, intellectual disability, intellectual, or developmental disability, developmental. The disabilities can range from mild to severe. Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part works. Functional disorders include metabolic disorder, metabolic and degenerative disease, degenerative disorders. Some birth defects include both structural and functional disorders. Birth defects may result from genetic disorder, genetic or chromosome abnormality, chromosomal disorders, exposure to certain medications or chemicals, or certain vertically transmitted infection, infections during pregnancy. Risk factors include folate deficiency, alcohol drink, d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Salbutamol
Salbutamol, also known as albuterol and sold under the brand name Ventolin among others, is a medication that opens up the medium and large airways in the lungs. It is a short-acting β2 adrenergic receptor agonist that causes relaxation of airway smooth muscle. It is used to treat asthma, including asthma attacks and exercise-induced bronchoconstriction, as well as chronic obstructive pulmonary disease (COPD). It may also be used to treat high blood potassium levels. Salbutamol is usually used with an inhaler or nebulizer, but it is also available in a pill, liquid, and intravenous solution. Onset of action of the inhaled version is typically within 15 minutes and lasts for two to six hours. Common side effects include shakiness, headache, fast heart rate, dizziness, and feeling anxious. Serious side effects may include worsening bronchospasm, irregular heartbeat, and low blood potassium levels. It can be used during pregnancy and breastfeeding, but safety is no ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
α-adrenergic Receptor Agonist
The adrenergic receptors or adrenoceptors are a class of G protein-coupled receptors that are targets of many catecholamines like norepinephrine (noradrenaline) and epinephrine (adrenaline) produced by the body, but also many medications like beta blockers, beta-2 (β2) agonists and alpha-2 (α2) agonists, which are used to treat high blood pressure and asthma, for example. Many cells have these receptors, and the binding of a catecholamine to the receptor will generally stimulate the sympathetic nervous system (SNS). The SNS is responsible for the fight-or-flight response, which is triggered by experiences such as exercise or fear-causing situations. This response dilates pupils, increases heart rate, mobilizes energy, and diverts blood flow from non-essential organs to skeletal muscle. These effects together tend to increase physical performance momentarily. History By the turn of the 19th century, it was agreed that the stimulation of sympathetic nerves could cause diff ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Beta-adrenergic Agonist
Beta adrenergic agonists or beta agonists are medications that relax muscles of the airways, causing widening of the airways and resulting in easier breathing. They are a class of sympathomimetic agents, each acting upon the beta adrenoceptors. In general, pure beta-adrenergic agonists have the opposite function of beta blockers: beta-adrenoreceptor agonist ligands mimic the actions of both epinephrine- and norepinephrine- signaling, in the heart and lungs, and in smooth muscle tissue; epinephrine expresses the higher affinity. The activation of β1, β2 and β3 activates the enzyme, adenylate cyclase. This, in turn, leads to the activation of the secondary messenger cyclic adenosine monophosphate (cAMP); cAMP then activates protein kinase A (PKA) which phosphorylates target proteins, ultimately inducing smooth muscle relaxation and contraction of the cardiac tissue. Function Activation of β1 receptors induces positive inotropic, chronotropic output of the cardiac muscle, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ephedrine
Ephedrine is a central nervous system (CNS) stimulant and sympathomimetic agent that is often used to prevent hypotension, low blood pressure during anesthesia. It has also been used for asthma, narcolepsy, and obesity but is not the preferred treatment. It is of unclear benefit in nasal congestion. It can be taken oral administration, by mouth or by intramuscular, injection into a muscle, intravenous, vein, or subcutaneous injection, just under the skin. Onset with intravenous use is fast, while injection into a muscle can take 20minutes, and by mouth can take an hour for effect. When given by injection, it lasts about an hour, and when taken by mouth, it can last up to four hours. Common side effects include insomnia, trouble sleeping, anxiety, headache, hallucinations, hypertension, high blood pressure, tachycardia, fast heart rate, decreased appetite, loss of appetite, and urinary retention. Serious side effects include stroke and myocardial infarction, heart attack. While ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fluoxetine
Fluoxetine, sold under the brand name Prozac, among others, is an Antidepressant, antidepressant medication of the selective serotonin reuptake inhibitor (SSRI) class used for the treatment of major depressive disorder, Anxiety disorder, anxiety, obsessive–compulsive disorder (OCD), panic disorder, premenstrual dysphoric disorder, and bulimia nervosa. It is also approved for treatment of major depressive disorder in adolescents and children 8 years of age and over. It has also been used to treat premature ejaculation. Fluoxetine is oral administration, taken by mouth. Common side effects include anorexia (symptom), loss of appetite, nausea, diarrhea, headache, insomnia, trouble sleeping, xerostomia, dry mouth, and sexual dysfunction. Serious side effects include serotonin syndrome, mania, seizures, an increased risk of suicide, suicidal behavior in people under 25 years old, and an increased risk of bleeding. Antidepressant discontinuation syndrome is less likely to occur ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Quinidine
Quinidine is a class I antiarrhythmic agent, class IA antiarrhythmic agent used to treat heart rhythm disturbances. It is a diastereomer of Antimalarial medication, antimalarial agent quinine, originally derived from the bark of the cinchona tree. The drug causes increased action potential duration, as well as a prolonged QT interval. As of 2019, its IV formulation is no longer being manufactured for use in the United States. Medical uses Quinidine is occasionally used as a class I antiarrhythmic agent to prevent ventricular arrhythmias, particularly in Brugada Syndrome, although its safety in this indication is uncertain. It reduces the recurrence of atrial fibrillation after patients undergo cardioversion, but it has proarrhythmic agent, proarrhythmic effects and trials suggest that it may lead to an overall increased mortality in these patients. Quinidine is also used to treat short QT syndrome. Eli Lilly has discontinued manufacture of parenteral quinidine gluconate in the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
3,4-diaminopyridine
Amifampridine phosphate is used as a drug, predominantly in the treatment of a number of rare muscle diseases. The free base form of the drug has been used to treat congenital myasthenic syndromes and approved by the FDA for Lambert–Eaton myasthenic syndrome (LEMS) through compassionate use programs since the 1990s and was recommended as a first line treatment for LEMS in 2006, using ''ad hoc'' forms of the drug, since there was no marketed form. Around 2000 doctors at Assistance Publique – Hôpitaux de Paris created a phosphate salt form, which was developed through a series of companies ending with BioMarin Pharmaceutical which obtained European approval in 2009 under the brand name Firdapse, and which licensed the US rights to Catalyst Pharmaceuticals in 2012. As of January 2017, Catalyst and another US company, Jacobus Pharmaceutical, which had been manufacturing and giving it away for free since the 1990s, were both seeking FDA approval for their iterations and mar ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Acetylcholine
Acetylcholine (ACh) is an organic compound that functions in the brain and body of many types of animals (including humans) as a neurotransmitter. Its name is derived from its chemical structure: it is an ester of acetic acid and choline. Parts in the body that use or are affected by acetylcholine are referred to as cholinergic. Acetylcholine is the neurotransmitter used at the neuromuscular junction. In other words, it is the chemical that motor neurons of the nervous system release in order to activate muscles. This property means that drugs that affect cholinergic systems can have very dangerous effects ranging from paralysis to convulsions. Acetylcholine is also a neurotransmitter in the autonomic nervous system, both as an internal transmitter for both the sympathetic nervous system, sympathetic and the parasympathetic nervous system, and as the final product released by the parasympathetic nervous system. Acetylcholine is the primary neurotransmitter of the parasympathet ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
