Torsion Dystonia
Torsion dystonia, also known as dystonia musculorum deformans, is a disease characterized by painful muscle contractions resulting in uncontrollable distortions. This specific type of dystonia is frequently found in children, with symptoms starting around the ages of 11 or 12. It commonly begins with contractions in one general area such as an arm or a leg that continue to progress throughout the rest of the body. It takes roughly 5 years for the symptoms to completely progress to a debilitating state. Causes The disease is caused by a genetic disorder which results in a defect in a protein called Torsin A. A mutation in the DYT1 gene causes the loss of an amino acid, glutamic acid, in the Torsin A protein. Torsin A is an evolutionarily conserved AAA+ ATPase. The defective protein disrupts communication in neurons that control muscle movement and muscle control. This mutation is most usually inherited from a parent but can occur spontaneously. The disease is caused by a dominant ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Muscle Contraction
Muscle contraction is the activation of Tension (physics), tension-generating sites within muscle cells. In physiology, muscle contraction does not necessarily mean muscle shortening because muscle tension can be produced without changes in muscle length, such as when holding something heavy in the same position. The termination of muscle contraction is followed by muscle relaxation, which is a return of the muscle fibers to their low tension-generating state. For the contractions to happen, the muscle cells must rely on the change in action of two types of Myofilament, filaments: thin and thick filaments. The major constituent of thin filaments is a chain formed by helical coiling of two strands of actin, and thick filaments dominantly consist of chains of the Motor protein, motor-protein myosin. Together, these two filaments form myofibrils - the basic functional organelles in the skeletal muscle system. In vertebrates, Muscle cell#Muscle contraction in striated muscle, skele ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Ashkenazi Jews
Ashkenazi Jews ( ; also known as Ashkenazic Jews or Ashkenazim) form a distinct subgroup of the Jewish diaspora, that emerged in the Holy Roman Empire around the end of the first millennium CE. They traditionally speak Yiddish, a language that originated in the 9th century, and largely migrated towards northern and eastern Europe during the late Middle Ages due to persecution. Hebrew was primarily used as a literary and sacred language until its 20th-century revival as a common language in Israel. Ashkenazim adapted their traditions to Europe and underwent a transformation in their interpretation of Judaism. In the late 18th and 19th centuries, Jews who remained in or returned to historical German lands experienced a cultural reorientation. Under the influence of the Haskalah and the struggle for emancipation, as well as the intellectual and cultural ferment in urban centres, some gradually abandoned Yiddish in favor of German and developed new forms of Jewish relig ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Deep Brain Stimulation
Deep brain stimulation (DBS) is a type of neurostimulation therapy in which an implantable pulse generator is stereotactic surgery, surgically implanted subcutaneous tissue, below the skin of the chest and connected by Lead (electronics), leads to the brain to deliver controlled electrical charge, electrical impulses. These charges therapeutically disrupt and promote dysfunctional nervous system circuits bidirectionally in both ante- and retrograde signaling, retrograde directions. Though first developed for Parkinsonian tremor, the technology has since been adapted to a wide variety of chronic neurologic disorders. The usage of electrical stimulation to treat neurologic disorders dates back thousands of years to ancient Greece and Early Dynastic Period (Egypt), dynastic Egypt. The distinguishing feature of DBS, however, is that by taking advantage of the portability of lithium-ion battery technology, it is able to be used long term without the patient having to be Electrical wir ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Flaccid Paralysis
Flaccid paralysis is a neurological condition characterized by weakness or paralysis and reduced muscle tone without other obvious cause (e.g., trauma). This abnormal condition may be caused by disease or by trauma affecting the nerves associated with the involved muscles. For example, if the somatic nerves to a skeletal muscle are severed, then the muscle will exhibit flaccid paralysis. When muscles enter this state, they become limp and cannot contract. This condition can become fatal if it affects the respiratory muscles, posing the threat of suffocation. It also occurs in the spinal shock stage in complete transection of the spinal cord occurring in injuries such as gunshot wounds.Saladin, Kenneth S. Anatomy & Physiology: The Unity of Form and Function. McGraw-Hill. 6th Edition. 2012. Causes Polio and other viruses The term ''acute flaccid paralysis'' (AFP) is often used to describe an instance with a sudden onset, as might be found with polio. AFP is the most co ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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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]   |
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Botulinum Toxin
Botulinum toxin, or botulinum neurotoxin (commonly called botox), is a neurotoxic protein produced by the bacterium ''Clostridium botulinum'' and related species. It prevents the release of the neurotransmitter acetylcholine from axon endings at the neuromuscular junction, thus causing flaccid paralysis. The toxin causes the disease botulism. The toxin is also used commercially for medical and cosmetic purposes. Botulinum toxin is an acetylcholine release inhibitor and a neuromuscular blocking agent. The seven main types of botulinum toxin are named types A to G (A, B, C1, C2, D, E, F and G). New types are occasionally found. Types A and B are capable of causing disease in humans, and are also used commercially and medically. Types C–G are less common; types E and F can cause disease in humans, while the other types cause disease in other animals. Botulinum toxins are among the most potent toxins known to science. Intoxication can occur naturally as a result of eithe ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Tetrabenazine
Tetrabenazine is a drug for the symptomatic treatment of hyperkinetic movement disorders. It is sold under the brand names Nitoman and Xenazine among others. On August 15, 2008, the US Food and Drug Administration (FDA) approved the use of tetrabenazine to treat chorea associated with Huntington's disease. Although other drugs had been used "off-label", tetrabenazine was the first approved treatment for Huntington's disease in the United States. The compound has been known since the 1950s. Medical uses Tetrabenazine is used as a treatment, but not as a cure, for hyperkinetic disorders such as: * Huntington's disease – specifically, the chorea associated with it * Tourette syndrome and other tic disorders * Tardive dyskinesia, a serious and sometimes irreversible side effect of long-term use of many antipsychotics, mainly typical antipsychotics * Hemiballismus, spontaneous flinging limb movements due to contra-lateral subthalamic nucleus damage Tetrabenazine has been used ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Dopaminergic
Dopaminergic means "related to dopamine" (literally, "working on dopamine"), a common neurotransmitter. Dopaminergic substances or actions increase dopamine-related activity in the brain. Dopaminergic pathways, Dopaminergic brain pathways facilitate dopamine-related activity. For example, certain proteins such as the dopamine transporter (DAT), vesicular monoamine transporter 2 (VMAT2), and dopamine receptors can be classified as dopaminergic, and neurons that Biosynthesis, synthesize or contain dopamine and synapses with dopamine receptors in them may also be labeled as ''dopaminergic''. Enzymes that regulate the biosynthesis or metabolism of dopamine such as aromatic L-amino acid decarboxylase or DOPA decarboxylase, monoamine oxidase (MAO), and catechol-O-methyl transferase, catechol ''O''-methyl transferase (COMT) may be referred to as ''dopaminergic'' as well. Also, any endogenous or exogenous chemical substance that acts to affect dopamine receptors or dopamine release thro ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Baclofen
Baclofen, sold under the brand name Lioresal among others, is a medication used to treat muscle spasticity, such as from a spinal cord injury or multiple sclerosis. It may also be used for hiccups and muscle spasms near the end of life, and off-label to treat alcohol use disorder or opioid withdrawal symptoms. It is taken orally or by intrathecal pump (delivered into the spinal canal via an implantable pump device). It is sometimes used transdermally (applied topically to the skin) in combination with gabapentin and clonidine prepared at a compounding pharmacy. It is believed to work by decreasing levels of certain neurotransmitters. Baclofen should be avoided in the setting of chronic kidney disease and end stage renal disease as even small doses can cause excessive toxicity. Common side effects include sleepiness, weakness, and dizziness. Serious side effects, such as seizures and rhabdomyolysis, may occur if use of baclofen is stopped abruptly. Use during pregn ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Benzodiazepines
Benzodiazepines (BZD, BDZ, BZs), colloquially known as "benzos", are a class of central nervous system (CNS) depressant drugs whose core chemical structure is the fusion of a benzene ring and a diazepine ring. They are prescribed to treat conditions such as anxiety disorders, insomnia, and seizures. The first benzodiazepine, chlordiazepoxide (Librium), was discovered accidentally by Leo Sternbach in 1955, and was made available in 1960 by Hoffmann–La Roche, which followed with the development of diazepam (Valium) three years later, in 1963. By 1977, benzodiazepines were the most prescribed medications globally; the introduction of selective serotonin reuptake inhibitors (SSRIs), among other factors, decreased rates of prescription, but they remain frequently used worldwide. Benzodiazepines are depressants that enhance the effect of the neurotransmitter gamma-aminobutyric acid (GABA) at the GABAA receptor, resulting in sedative, hypnotic ( sleep-inducing), anxiolyt ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Anticholinergics
Anticholinergics (anticholinergic agents) are substances that block the action of the acetylcholine (ACh) neurotransmitter at synapses in the central and peripheral nervous system. These agents inhibit the parasympathetic nervous system by selectively blocking the binding of ACh to its receptor in nerve cells. The nerve fibers of the parasympathetic system are responsible for the involuntary movement of smooth muscles present in the gastrointestinal tract, urinary tract, lungs, sweat glands, and many other parts of the body. In broad terms, anticholinergics are divided into two categories in accordance with their specific targets in the central and peripheral nervous system and at the neuromuscular junction: antimuscarinic agents and antinicotinic agents ( ganglionic blockers, neuromuscular blockers). The term "anticholinergic" is typically used to refer to antimuscarinics that competitively inhibit the binding of ACh to muscarinic acetylcholine receptors; such agents do not ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |