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Potassium-aggravated Myotonia
Potassium-aggravated myotonia is a rare genetic disorder that affects skeletal muscle. Beginning in childhood or adolescence, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. Myotonia causes muscle stiffness, often painful, that worsens after exercise and may be aggravated by eating potassium-rich foods such as bananas and potatoes. Stiffness occurs in skeletal muscles throughout the body. Potassium-aggravated myotonia ranges in severity from mild episodes of muscle stiffness to severe, disabling disease with frequent attacks. Potassium-aggravated myotonia may, in some cases, also cause paradoxical myotonia, in which myotonia becomes more severe at the time of movement instead of after movement has ceased. Unlike some other forms of myotonia, potassium-aggravated myotonia is not associated with episodes of muscle weakness. Mutations in the ''SCN4A'' gene cause potassium-aggravated myotonia. The ''SCN4A' ...
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Myotonia Figure
Myotonia is a symptom of a small handful of certain neuromuscular disorders characterized by delayed relaxation (prolonged contraction) of the skeletal muscles after voluntary contraction or electrical stimulation, and the muscle shows an abnormal EMG. Myotonia is the defining symptom of many channelopathies (diseases of ion channel transport) such as myotonia congenita, paramyotonia congenita and myotonic dystrophy. Brody disease (a disease of ion pump transport) has symptoms similar to myotonia congenita, however, the delayed muscle relaxation is pseudo-myotonia as the EMG is normal. Other diseases that exhibit pseudo-myotonia are myositis, glycogen storage diseases, hyperkalemic periodic paralysis, root disease, anterior horn cell disorders, Isaacs syndrome, and Hoffmann syndrome. Generally, repeated contraction of the muscle can alleviate the myotonia and relax the muscles thus improving the condition, however, this is not the case in paramyotonia congenita. Thi ...
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Genetic Disorder
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development (a ''de novo'' mutation), or it can be inherited from two parents who are carriers of a faulty gene ( autosomal recessive inheritance) or from a parent with the disorder (autosomal dominant inheritance). When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y chromosome or mitochondrial DNA (due to their size). There are well over 6,000 known ...
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Skeletal Muscle
Skeletal muscle (commonly referred to as muscle) is one of the three types of vertebrate muscle tissue, the others being cardiac muscle and smooth muscle. They are part of the somatic nervous system, voluntary muscular system and typically are attached by tendons to bones of a skeleton. The skeletal muscle cells are much longer than in the other types of muscle tissue, and are also known as ''muscle fibers''. The tissue of a skeletal muscle is striated muscle tissue, striated – having a striped appearance due to the arrangement of the sarcomeres. A skeletal muscle contains multiple muscle fascicle, fascicles – bundles of muscle fibers. Each individual fiber and each muscle is surrounded by a type of connective tissue layer of fascia. Muscle fibers are formed from the cell fusion, fusion of developmental myoblasts in a process known as myogenesis resulting in long multinucleated cells. In these cells, the cell nucleus, nuclei, termed ''myonuclei'', are located along the inside ...
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Myotonia
Myotonia is a symptom of a small handful of certain neuromuscular disorders characterized by delayed relaxation (prolonged contraction) of the skeletal muscles after voluntary contraction or electrical stimulation, and the muscle shows an abnormal EMG. Myotonia is the defining symptom of many channelopathies (diseases of ion channel transport) such as myotonia congenita, paramyotonia congenita and myotonic dystrophy. Brody disease (a disease of ion pump transport) has symptoms similar to myotonia congenita, however, the delayed muscle relaxation is pseudo-myotonia as the EMG is normal. Other diseases that exhibit pseudo-myotonia are myositis, glycogen storage diseases, hyperkalemic periodic paralysis, root disease, anterior horn cell disorders, Isaacs syndrome, and Hoffmann syndrome. Generally, repeated contraction of the muscle can alleviate the myotonia and relax the muscles thus improving the condition, however, this is not the case in paramyotonia congenita. ...
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Potassium
Potassium is a chemical element; it has Symbol (chemistry), symbol K (from Neo-Latin ) and atomic number19. It is a silvery white metal that is soft enough to easily cut with a knife. Potassium metal reacts rapidly with atmospheric oxygen to form flaky white potassium peroxide in only seconds of exposure. It was first isolated from potash, the ashes of plants, from which its name derives. In the periodic table, potassium is one of the alkali metals, all of which have a single valence electron in the outer electron shell, which is easily removed to create cation, an ion with a positive charge (which combines with anions to form salts). In nature, potassium occurs only in ionic salts. Elemental potassium reacts vigorously with water, generating sufficient heat to ignite hydrogen emitted in the reaction, and burning with a lilac-flame color, colored flame. It is found dissolved in seawater (which is 0.04% potassium by weight), and occurs in many minerals such as orthoclase, a ...
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Banana
A banana is an elongated, edible fruit – botanically a berry – produced by several kinds of large treelike herbaceous flowering plants in the genus '' Musa''. In some countries, cooking bananas are called plantains, distinguishing them from dessert bananas. The fruit is variable in size, color and firmness, but is usually elongated and curved, with soft flesh rich in starch covered with a peel, which may have a variety of colors when ripe. It grows upward in clusters near the top of the plant. Almost all modern edible seedless ( parthenocarp) cultivated bananas come from two wild species – '' Musa acuminata'' and ''Musa balbisiana'', or hybrids of them. ''Musa'' species are native to tropical Indomalaya and Australia; they were probably domesticated in New Guinea. They are grown in 135 countries, primarily for their fruit, and to a lesser extent to make banana paper and textiles, while some are grown as ornamental plants. The world's largest producers of bananas ...
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Potato
The potato () is a starchy tuberous vegetable native to the Americas that is consumed as a staple food in many parts of the world. Potatoes are underground stem tubers of the plant ''Solanum tuberosum'', a perennial in the nightshade family Solanaceae. Wild potato species can be found from the southern United States to southern Chile. Genetic studies show that the cultivated potato has a single origin, in the area of present-day southern Peru and extreme northwestern Bolivia. Potatoes were domesticated there about 7,000–10,000 years ago from a species in the '' S. brevicaule'' complex. Many varieties of the potato are cultivated in the Andes region of South America, where the species is indigenous. The Spanish introduced potatoes to Europe in the second half of the 16th century from the Americas. They are a staple food in many parts of the world and an integral part of much of the world's food supply. Following millennia of selective breeding, there are now over 5 ...
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Sodium
Sodium is a chemical element; it has Symbol (chemistry), symbol Na (from Neo-Latin ) and atomic number 11. It is a soft, silvery-white, highly reactive metal. Sodium is an alkali metal, being in group 1 element, group 1 of the periodic table. Its only stable isotope is 23Na. The free metal does not occur in nature and must be prepared from compounds. Sodium is the Abundance of elements in Earth's crust, sixth most abundant element in the Earth's crust and exists in numerous minerals such as feldspars, sodalite, and halite (NaCl). Many salts of sodium are highly water-soluble: sodium ions have been Leaching (chemistry), leached by the action of water from the Earth, Earth's minerals over eons, and thus sodium and chlorine are the most common dissolved elements by weight in the oceans. Sodium was first isolated by Humphry Davy in 1807 by the electrolysis of sodium hydroxide. Among many other useful sodium compounds, sodium hydroxide (lye) is used in Soap, soap manufac ...
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Autosomal Dominant
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The first variant is termed dominant and the second is called recessive. This state of having Heterozygosity, two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or Heredity, inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes (autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, ...
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Channelopathies
Channelopathies are a group of diseases caused by the dysfunction of ion channel subunits or their interacting proteins. These diseases can be inherited or acquired by other disorders, drugs, or toxins. Mutations in genes encoding ion channels, which impair channel function, are the most common cause of channelopathies. There are more than 400 genes that encode ion channels, found in all human cell types and are involved in almost all physiological processes. Each type of channel is a multimeric complex of subunits encoded by a number of genes. Depending where the mutation occurs it may affect the gating, conductance, ion selectivity, or signal transduction of the channel. Channelopathies can be categorized based on the organ system which they are associated with. In the cardiovascular system, the electrical impulse needed for each heartbeat is made possible by the electrochemical gradient of each heart cell. Because the heartbeat is dependent on the proper movement of ions across ...
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Musculoskeletal Disorders
Musculoskeletal disorders (MSDs) are injuries or pain in the human musculoskeletal system, including the joints, ligaments, muscles, nerves, tendons, and structures that support limbs, neck and back. MSDs can arise from a sudden exertion (e.g., lifting a heavy object), or they can arise from making the same motions repeatedly (repetitive strain), or from repeated exposure to force, vibration, or awkward posture. Injuries and pain in the musculoskeletal system caused by acute traumatic events like a car accident or fall are not considered musculoskeletal disorders. MSDs can affect many different parts of the body including upper and lower back, neck, shoulders and extremities (arms, legs, feet, and hands). Examples of MSDs include carpal tunnel syndrome, epicondylitis, tendinitis, back pain, tension neck syndrome, and hand-arm vibration syndrome. Causes MSDs can arise from the interaction of physical factors with ergonomic, psychological, social, and occupational factors. Biomec ...
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