|
Myoclonic Astatic Epilepsy
Myoclonic astatic epilepsy (MAE), also known as myoclonic atonic epilepsy or Doose syndrome, and renamed "Epilepsy with myoclonic-atonic seizures" in the ILAE 2017 classification, is a generalized idiopathic epilepsy. It is characterized by the development of myoclonic seizures and/or myoclonic astatic seizures. Some of the common monogenic causes include mutations in the genes SLC6A1 (3p25.3), CHD2 (15q26.1) and AP2M1 (10q23.2). Signs and symptoms * Tonic-clonic seizures: seizures with repetitive sequences of stiffening and jerking of the extremities. * Myoclonic seizures: seizures with rapid, brief contractions of muscles. * Atonic seizures: seizures with a sudden loss of muscle tone, often resulting in sudden collapse. These are also called drop seizures or astatic seizures. * Absence seizures: a generalized seizure characterized by staring off and occasionally some orofacial automatisms. * Myoclonic astatic seizures: seizures that involve a myoclonic seizure followed immedi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ILAE
The International League Against Epilepsy ("ILAE") was started in 1909. Its goal is to improve the lives of people with epilepsy Epilepsy is a group of Non-communicable disease, non-communicable Neurological disorder, neurological disorders characterized by a tendency for recurrent, unprovoked Seizure, seizures. A seizure is a sudden burst of abnormal electrical activit ... through research. Today the ILAE has more than 150 national chapters, and over 26,000 members, mostly health care professionals. The ILAE produced the "2017 ILAE Classification of the Epilepsies", and its more detailed follow-up papers, by a number of specialist clinicians, all published in ''Epilepsia''. This replaces earlier classifications of epilepsy syndromes produced by ILAE. They run the medical journals ''Epilepsia'', ''Epilepsia Open'', and '' Epileptic Disorders''. References External links * Epilepsy organizations {{disability-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ketogenic Diet
The ketogenic diet is a high-fat, adequate-protein, low-carbohydrate diet, low-carbohydrate dietary therapy that in conventional medicine is used mainly to treat hard-to-control (refractory) epilepsy in children. The diet forces the body to burn fats rather than carbohydrates. Normally, carbohydrates in food are converted into glucose, which is then transported around the body and is important in Brain metabolism, fueling brain function. However, if only a little carbohydrate remains in the diet, the liver converts triacylglycerol, fat into fatty acids and ketone bodies, the latter passing into the brain and replacing glucose as an energy source. An elevated level of ketone bodies in the blood (a state called ketosis) eventually lowers the frequency of epileptic seizures. Around half of children and young people with epilepsy who have tried some form of this diet saw the number of seizures drop by at least half, and the effect persists after discontinuing the diet. Some eviden ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Epilepsy Types
Epilepsy is a group of non-communicable neurological disorders characterized by a tendency for recurrent, unprovoked seizures. A seizure is a sudden burst of abnormal electrical activity in the brain that can cause a variety of symptoms, ranging from brief lapses of awareness or muscle jerks to prolonged convulsions. These episodes can result in physical injuries, either directly, such as broken bones, or through causing accidents. The diagnosis of epilepsy typically requires at least two unprovoked seizures occurring more than 24 hours apart. In some cases, however, it may be diagnosed after a single unprovoked seizure if clinical evidence suggests a high risk of recurrence. Isolated seizures that occur without recurrence risk or are provoked by identifiable causes are not considered indicative of epilepsy. The underlying cause is often unknown, but epilepsy can result from brain injury, stroke, infections, tumors, genetic conditions, or developmental abnormalities. Epilepsy ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SLC6A1 Epileptic Encephalopathy
SLC6A1 epileptic encephalopathy is a genetic disorder characterised by the loss-of-function of one copy of the human SLC6A1 gene. SLC6A1 epileptic encephalopathy can typically manifest itself with early onset seizures and it can also be characterised by mild to severe learning disability. Not all manifestations of the conditions are present in one given patient. Background Research published in 2015 linked mutations on the solute carrier family 6 member 1 protein (SLC6A1) to developmental and epileptic encephalopathies. SLC6A1 is present only on 13% of genetic panel testing, so the condition is very under-diagnosed. Currently an incidence of 1 in 38,000 births is reported. Signs and symptoms Owing to the limited number of patients diagnosed, the full extent of symptoms is not fully understood. Typically, the condition manifests itself via absence seizures, myoclonic-atonic epilepsy and mild-to-moderate learning disability. In addition, speech difficulties and behavioral problems ha ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hermann Doose
Hermann or Herrmann may refer to: * Hermann (name), list of people with this name * Arminius, chieftain of the Germanic Cherusci tribe in the 1st century, known as Hermann in the German language * Éditions Hermann, French publisher * Hermann, Missouri, a town on the Missouri River in the United States ** Hermann AVA, Missouri wine region * The German SC1000 bomb of World War II was nicknamed the "Hermann" by the British, in reference to Hermann Göring * Herrmann Hall, the former Hotel Del Monte, at the Naval Postgraduate School, Monterey, California * Memorial Hermann Healthcare System, a large health system in Southeast Texas * The Herrmann Brain Dominance Instrument (HBDI), a system to measure and describe thinking preferences in people * Hermann station (other), stations of the name * Hermann (crater), a small lunar impact crater in the western Oceanus Procellarum * Hermann Huppen, a Belgian comic book artist * Hermann 19, an American sailboat design built by Ted Herm ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dysarthria
Dysarthria is a speech sound disorder resulting from neurological injury of the motor component of the motor–speech system and is characterized by poor articulation of phonemes. It is a condition in which problems effectively occur with the muscles that help produce speech, often making it very difficult to pronounce words. It is unrelated to problems with understanding language (that is, dysphasia or aphasia), although a person can have both. Any of the speech subsystems ( respiration, phonation, resonance, prosody, and articulation) can be affected, leading to impairments in intelligibility, audibility, naturalness, and efficiency of vocal communication. Dysarthria that has progressed to a total loss of speech is referred to as anarthria. The term ''dysarthria'' was formed from the Greek components ''dys-'' "dysfunctional, impaired" and ''arthr-'' "joint, vocal articulation". Neurological injury due to damage in the central or peripheral nervous system may result in wea ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ataxia
Ataxia (from Greek α- negative prefix+ -τάξις rder= "lack of order") is a neurological sign consisting of lack of voluntary coordination of muscle movements that can include gait abnormality, speech changes, and abnormalities in eye movements, that indicates dysfunction of parts of the nervous system that coordinate movement, such as the cerebellum. These nervous system dysfunctions occur in several different patterns, with different results and different possible causes. Ataxia can be limited to one side of the body, which is referred to as hemiataxia. Friedreich's ataxia has gait abnormality as the most commonly presented symptom. Dystaxia is a mild degree of ataxia. Types Cerebellar The term cerebellar ataxia is used to indicate ataxia due to dysfunction of the cerebellum. The cerebellum is responsible for integrating a significant amount of neural information that is used to coordinate smoothly ongoing movements and to participate in motor planning. A ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ketogenic Diet
The ketogenic diet is a high-fat, adequate-protein, low-carbohydrate diet, low-carbohydrate dietary therapy that in conventional medicine is used mainly to treat hard-to-control (refractory) epilepsy in children. The diet forces the body to burn fats rather than carbohydrates. Normally, carbohydrates in food are converted into glucose, which is then transported around the body and is important in Brain metabolism, fueling brain function. However, if only a little carbohydrate remains in the diet, the liver converts triacylglycerol, fat into fatty acids and ketone bodies, the latter passing into the brain and replacing glucose as an energy source. An elevated level of ketone bodies in the blood (a state called ketosis) eventually lowers the frequency of epileptic seizures. Around half of children and young people with epilepsy who have tried some form of this diet saw the number of seizures drop by at least half, and the effect persists after discontinuing the diet. Some eviden ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Vagus Nerve Stimulator
Vagus nerve stimulation (VNS) is a medical treatment that involves delivering electrical impulses to the vagus nerve. Initially developed by James Leonard Corning to compress or stimulate the carotid sheath, VNS typically refers to an implantable electrode. However, non-invasive VNS delivered transcutaneously via the auricular branch of the vagus nerve, or through the skin to the cervical nerve, is being investigated in clinical research. Invasive VNS is used as an adjunct treatment for certain types of intractable epilepsy, cluster headaches, migraine, treatment-resistant depression and stroke rehabilitation. Medical use Epilepsy VNS is used to treat drug-resistant epilepsy. For refractive epilepsy, cervical VNS on the left side is FDA-approved. In the United States, VNS is approved as adjunctive therapy for those 4 years of age or older with refractory focal onset seizures. In the European Union, VNS is approved as an adjunctive therapy for patients with either generalized or ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Idiopathic Disease
An idiopathic disease is any disease with an unknown cause or mechanism of apparent spontaneous origin. For some medical conditions, one or more causes are somewhat understood, but in a certain percentage of people with the condition, the cause may not be readily apparent or characterized. In these cases, the origin of the condition is said to be idiopathic. With some other medical conditions, the root cause for a large percentage of all cases has not been established—for example, focal segmental glomerulosclerosis or ankylosing spondylitis; the majority of these cases are deemed idiopathic. Certain medical conditions, when idiopathic, notably some forms of epilepsy and stroke, are preferentially described by the synonymous term of cryptogenic. Derivation The term 'idiopathic' derives from Greek ''idios'' "one's own" and ''pathos'' "suffering", so ''idiopathy'' means approximately "a disease of its own kind". Examples Diseases where the cause is seen as wholly or partly ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Absence Seizures
Absence seizures are one of several kinds of generalized seizures. Absence seizures are characterized by a brief loss and return of consciousness, generally not followed by a period of lethargy (i.e. without a notable postictal state). Absence seizures are most common in children. They affect both sides of the brain. In the past, absence epilepsy was referred to as "pyknolepsy," a term derived from the Greek word "pyknos," signifying "extremely frequent" or "grouped". These seizures are sometimes referred to as petit mal seizures (from the French for "little illness", a term dated to the late 18th century); however, usage of this terminology is no longer recommended. Childhood absence epilepsy represents a significant portion, accounting for approximately 10 to 17%, of all cases of childhood-onset epilepsy, establishing it as the most common form of pediatric epilepsy. This syndrome is characterized by daily occurrences of frequent but brief episodes of staring spells. These ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Atonic Seizures
An atonic seizure (also called drop seizure, akinetic seizure, astatic seizure, or drop attack) is a type of seizure that consists of partial or complete loss of muscle tone that is caused by temporary alterations in brain function. These seizures are brief – usually less than fifteen seconds. They usually begin in childhood and may persist into adulthood. The seizure itself causes no physical injury, but the loss of control, predominantly in trunk muscles, can result in direct injury from falling. Electroencephalography can be used to confirm diagnosis. It is rare and can be indicative of Lennox–Gastaut syndrome Lennox–Gastaut syndrome (LGS) is a complex, rare, and severe childhood-onset epilepsy syndrome. It is characterized by multiple and concurrent seizure types including tonic seizure, cognitive dysfunction, and slow spike waves on electroencephalo ... (''see'' Henri Gastaut). Atonic seizures can occur while standing, walking, or sitting, and are often noticeable by a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
