|
Paramyotonia Congenita
Paramyotonia congenita (PC) is a rare congenital autosomal dominant neuromuscular disorder characterized by "paradoxical" myotonia. This type of myotonia has been termed paradoxical because it becomes worse with exercise whereas classical myotonia, as seen in myotonia congenita, is alleviated by exercise. PC is also distinguished as it can be induced by cold temperatures. Although more typical of the periodic paralytic disorders, patients with PC may also have potassium-provoked paralysis. PC typically presents within the first decade of life and has 100% penetrance. Patients with this disorder commonly present with myotonia in the face or upper extremities. The lower extremities are generally less affected. While some other related disorders result in muscle atrophy, this is not normally the case with PC. This disease can also present as hyperkalemic periodic paralysis and there is debate as to whether the two disorders are actually distinct. Symptoms and signs Patients typically ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Dominant
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second recessive. This state of having 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 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 copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as incomple ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Asterisks
The asterisk ( ), from Late Latin , from Ancient Greek , ''asteriskos'', "little star", is a Typography, typographical symbol. It is so called because it resembles a conventional image of a star (heraldry), heraldic star. Computer scientists and mathematicians often vocalize it as star (as, for example, in ''the A* search algorithm'' or ''C*-algebra''). In English, an asterisk is usually five- or six-pointed in sans-serif typefaces, six-pointed in serif typefaces, and six- or eight-pointed when handwritten. Its most common use is to call out a footnote. It is also often used to censor offensive words. In computer science, the asterisk is commonly used as a wildcard character, or to denote pointer (computer programming), pointers, repetition, or multiplication. History The asterisk has already been used as a symbol in ice age cave paintings. There is also a two thousand-year-old character used by Aristarchus of Samothrace called the , , which he used when proofreading Homeri ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Founder Effect
In population genetics, the founder effect is the loss of genetic variation that occurs when a new population is established by a very small number of individuals from a larger population. It was first fully outlined by Ernst Mayr in 1942, using existing theoretical work by those such as Sewall Wright. As a result of the loss of genetic variation, the new population may be distinctively different, both genotypically and phenotypically, from the parent population from which it is derived. In extreme cases, the founder effect is thought to lead to the speciation and subsequent evolution of new species. In the figure shown, the original population has nearly equal numbers of blue and red individuals. The three smaller founder populations show that one or the other color may predominate (founder effect), due to random sampling of the original population. A population bottleneck may also cause a founder effect, though it is not strictly a new population. The founder effect occu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ravensberg Land
Ravensberg Land (german: Ravensberger Land) is a cultural landscape in the district of Ostwestfalen-Lippe in the northeast of the German federal state of North Rhine-Westphalia. It lies between the Wiehen Hills to the north, the Teutoburg Forest to the south, the state border with Lower Saxony to the west and the large bend in the River Weser and the boundary of Lippe district to the east. It thus essentially encompasses the Westphalian part of the Ravensberg Hills. The most important towns are Bielefeld (northern and central quarters), Herford, Bad Oeynhausen and Bünde. The area is characterised by long-standing, intensive farming in its loess, hill country, a wide range of industry and a high population density. Historically the region was dominated by centuries of Prussian overlordship. Until into the 20th century, its people were purely of the Evangelical-Lutheran faith and had a common dialect known as ''Ravensberger Platt''. Ravensberg Land must not be confused with the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Germany
Germany,, officially the Federal Republic of Germany, is a country in Central Europe. It is the second most populous country in Europe after Russia, and the most populous member state of the European Union. Germany is situated between the Baltic and North seas to the north, and the Alps to the south; it covers an area of , with a population of almost 84 million within its 16 constituent states. Germany borders Denmark to the north, Poland and the Czech Republic to the east, Austria and Switzerland to the south, and France, Luxembourg, Belgium, and the Netherlands to the west. The nation's capital and most populous city is Berlin and its financial centre is Frankfurt; the largest urban area is the Ruhr. Various Germanic tribes have inhabited the northern parts of modern Germany since classical antiquity. A region named Germania was documented before AD 100. In 962, the Kingdom of Germany formed the bulk of the Holy Roman Empire. During the 16th ce ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Acetazolamide
Acetazolamide, sold under the trade name Diamox among others, is a medication used to treat glaucoma, epilepsy, altitude sickness, periodic paralysis, idiopathic intracranial hypertension (raised brain pressure of unclear cause), urine alkalinization, and heart failure. It may be used long term for the treatment of open angle glaucoma and short term for acute angle closure glaucoma until surgery can be carried out. It is taken by mouth or injection into a vein. Acetazolamide is a first generation carbonic anhydrase inhibitor and it decreases the ocular fluid and osmolality in the eye to decrease intraocular pressure. Common side effects include numbness, ringing in the ears, loss of appetite, vomiting, and sleepiness. It is not recommended in those with significant kidney problems, liver problems, or who are allergic to sulfonamides. Acetazolamide is in the diuretic and carbonic anhydrase inhibitor families of medication. It works by decreasing the formation of hydrogen io ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mexiletine
Mexiletine ( INN) (sold under the brand names Mexitil and Namuscla) is a medication used to treat abnormal heart rhythms, chronic pain, and some causes of muscle stiffness. Common side effects include abdominal pain, chest discomfort, drowsiness, headache, and nausea. It works as a non-selective voltage-gated sodium channel blocker and belongs to the Class IB group of anti-arrhythmic medications. Medical uses Mexiletine has several uses including the treatment of abnormal heart rhythms or arrhythmias, chronic pain, and myotonia. In general when treating arrhythmias, mexiletine is reserved for use in dangerous heart rhythm disturbances such as ventricular tachycardia. It is of particular use when treating arrhythmias caused by long QT syndrome. The LQT3 form of long QT syndrome is amenable to treatment with mexiletine as this form is caused by defective sodium channels that continue to release a sustained current rather than fully inactivating, however other forms of long Q ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Electromyography
Electromyography (EMG) is a technique for evaluating and recording the electrical activity produced by skeletal muscles. EMG is performed using an instrument called an electromyograph to produce a record called an electromyogram. An electromyograph detects the electric potential generated by muscle cells when these cells are electrically or neurologically activated. The signals can be analyzed to detect abnormalities, activation level, or recruitment order, or to analyze the biomechanics of human or animal movement. Needle EMG is an electrodiagnostic medicine technique commonly used by neurologists. Surface EMG is a non-medical procedure used to assess muscle activation by several professionals, including physiotherapists, kinesiologists and biomedical engineers. In Computer Science, EMG is also used as middleware in gesture recognition towards allowing the input of physical action to a computer as a form of human-computer interaction. Clinical uses EMG testing has a variety ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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'' ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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. Myotonia is the defining symptom of many channelopathies such as myotonia congenita, paramyotonia congenita and myotonic dystrophy. 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. This phenomenon is known as the "warm-up" reflex and is not to be confused with warming up before exercise, though they may appear similar. Individuals with the disorder may have trouble releasing their grip on objects or may have difficulty rising from a sitting position and a stiff, awkward gait. Myotonia can affect all muscle groups; however, the pattern of affected muscles can vary depending on the specific disorder involved. People with disorders involvi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
