About: Myotonia congenita

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Myotonia congenita is a congenital neuromuscular channelopathy that affects skeletal muscles (muscles used for movement). It is a genetic disorder. The hallmark of the disease is the failure of initiated contraction to terminate, often referred to as delayed relaxation of the muscles (myotonia) and rigidity. Symptoms include delayed relaxation of the muscles after voluntary contraction (myotonia), and may also include stiffness, hypertrophy (enlargement), transient weakness in some forms of the disorder (from certain genetic mutations), severe masseter spasm, and cramping. The condition is sometimes referred to as fainting goat syndrome, as it is responsible for the eponymous 'fainting' seen in fainting goats when presented with a sudden stimulus. Of note, myotonia congenita has no associa

Attributes	Values
rdf:type	Thing Disease disease umbel-rc:AilmentCondition
rdfs:label	تأتر العضل الخلقي (ar) Myotonia congenita Thomsen (de) Miotonía congénita (es) Myotonie congénitale (fr) Miotonia congenita di Thomsen (it) Myotonia congenita (en) Choroba Thomsena (pl) Myotonia congenita (nl) Myotonia congenita (sv) 先天性肌强直 (zh)
rdfs:comment	تأتر العضل الخلقي (بالإنجليزية: Myotonia congenita)‏ هو عيب خلقي في التشابك العصبي العضلي وقنوات الأيونات مما يؤثر على العضلات الهيكلية (عضلات تستخدم للحركة). (ar) La miotonía congénita, también llamada enfermedad de Thomsen y Becker, es una rara enfermedad congénita y hereditaria que provoca como síntoma principal una relajación muscular lenta. Las primeras manifestaciones aparecen poco después del nacimiento. Se distinguen 2 variantes, la forma de herencia autosómica dominante o enfermedad de Thomsen y la de herencia autosómica recesiva o enfermedad de Becker, esta última tiende a ser más grave. (es) La miotonia congenita di Thomsen è una delle due principali forme di miotonia congenita. Si tratta di una malattia genetica a trasmissione autosomica dominante caratterizzata da un'anomalia del rilasciamento muscolare dopo contrazione. La modalità di trasmissione genetica e alcune caratteristiche minori la distinguono dalla Miotonia congenita di Becker, a trasmissione autosomica recessiva. (it) Myotonia congenita, of congenitale myotonie is een zeer zeldzame erfelijke spieraandoening die onder te verdelen is de ziekte van Becker (dystrofinopathie) en de ziekte van Thomsen (autosomaal dominante myotonia congenita). Congenita betekent "aangeboren", en hereditaria, erfelijk. Myotonia betekent "het abnormaal aangespannen zijn van spieren". (nl) Choroba Thomsena, miotonia wrodzona Thomsena, miotonia Thomsena i Beckera (ang. Thomsen disease) – rzadkie, uwarunkowane genetycznie schorzenie mięśni szkieletowych charakteryzujące się przedłużającym się skurczem, z utrudnieniem rozkurczu. Choroba należy do grupy chorób, związanych z patologią kanałów jonowych nazywanych kanałopatiami. W chorobie Thomsena obserwuje się zjawisko poprawy po wykonaniu pierwszych kilku ruchów (warm up, efekt rozgrzewanie się). (pl) 先天性肌强直（Myotonia congenita）是一种先天性神经肌肉离子通道病，会影响骨骼肌。这是一种遗传性疾病。该疾病的特点是肌肉无法终止收缩，延迟松弛，以及僵硬。症状包括自主收缩后肌肉延迟松弛（肌强直），也可能包括僵硬，肥大，来自某些形式的疾病的暂时性虚弱（来自某些基因突变），和痉挛。它有时被称为“昏倒羊综合症”，因为它是昏倒羊在受到刺激时昏倒的原因。 (zh) Die Myotonia congenita Thomsen ist eine vererbte Störung der Muskelfunktion, eine sogenannte Myopathie. Die Erkrankung wurde erstmals 1876 von dem dänischen Arzt Julius Thomsen bei sich selbst sowie 20 weiteren Familienmitgliedern über vier Generationen beschrieben. Medikamente wie Mexitil, Phenytoin, Carbamazepin oder Chininsulfat können die Symptomatik bessern. (de) La myotonie congénitale, également connue sous son nom latin de « myotonia congenita » est une maladie musculaire de cause génétique se traduisant par un défaut de relâchement musculaire appelé myotonie. Cette affection touche tous les muscles y compris les muscles oculaires, faciaux et linguaux. La myotonie s'accompagne souvent d'hypertrophie musculaire. L'affection touche plus sévèrement les hommes que les femmes. La forme de Becker est plus sévère et s'accompagne d'une faiblesse musculaire transitoire à l'effort. (fr) Myotonia congenita is a congenital neuromuscular channelopathy that affects skeletal muscles (muscles used for movement). It is a genetic disorder. The hallmark of the disease is the failure of initiated contraction to terminate, often referred to as delayed relaxation of the muscles (myotonia) and rigidity. Symptoms include delayed relaxation of the muscles after voluntary contraction (myotonia), and may also include stiffness, hypertrophy (enlargement), transient weakness in some forms of the disorder (from certain genetic mutations), severe masseter spasm, and cramping. The condition is sometimes referred to as fainting goat syndrome, as it is responsible for the eponymous 'fainting' seen in fainting goats when presented with a sudden stimulus. Of note, myotonia congenita has no associa (en) Myotonia congenita betyder medfödd muskelstelhet. Sjukdomen yttrar sig av muskelstelhet som kan vara permanent eller förekomma vid vila eller vid muskelansträngningar. Ibland kan även muskelsvaghet förekomma permanent eller i samband med stelheten. Det finns två former av myotonia congenita, dels Thomsens sjukdom och dels . År 1971 Beskrev den tyske läkaren P E Becker en variant av sjukdomen med annan ärftlighetsgång och ofta svårare symtom. (sv)
foaf:name	Myotonia congenita (en)
name	Myotonia congenita (en)
dcterms:subject	Myoneural junction and neuromuscular diseases Rare diseases Channelopathies
Wikipage page ID	2775601 (xsd:integer)
Wikipage revision ID	1119588793 (xsd:integer)
Link from a Wikipage to another Wikipage	Calcium Carbamazepine dbr:Quinine Anticonvulsant Myoneural junction and neuromuscular diseases Peter Emil Becker Depolarization New Forest pony Potassium-aggravated myotonia Membrane potential Genetic disorder Genetic testing Myotonic dystrophy Na+/K+-ATPase Myotonia Andersen-Tawil syndrome Magnesium Malignant hyperthermia Public health journal Autosomal dominant Autosomal recessive Tonic immobility Action potentials Extracellular Finland Finns Brody myopathy dbr:Ouabain Fainting goat Goldman equation Muscle contraction Rare diseases Action potential threshold Intracellular Cramp Hypokalemic periodic paralysis Hypertrophy Hypokinesia Channelopathies Chloride channel Skeletal muscles Axilla CLCN1 Phenytoin Fainting goats Mexiletine Nernst equation Channelopathy Muscular dystrophy Stiff person syndrome Word sense Neuromyotonia Sodium channel Etiology Congenital abnormality Schwartz–Jampel syndrome Finnish heritage disease Nav1.4 Motor nerve Paramyotonia congenita Skeletal muscle Equilibrium potential Transverse tubule SCN4A Chloride channels KCNJ2 OMIM
Link from a Wikipage to an external page	https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi%3Fbook=gene&part=myotonia-c http://www.ninds.nih.gov/disorders/disorder_index.htm

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