{"orpha":210163,"name":"Congenital lethal myopathy, Compton-North type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Congenital lethal myopathy, Compton-North type is a rare, genetic, lethal, non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-210163/","orphanet_url":"https://www.orpha.net/en/disease/detail/210163","names":{"fr":{"name":"Myopathie létale congénitale type Compton-North","definition":"Myopathie congénitale non dystrophique rare et létale d'origine génétique, caractérisée, avant la naissance, par une akinésie foetale, un retard de croissance intra-utérin et un polyhydramnios et, après la naissance, par une hypotonie néonatale sévère, une faiblesse généralisée et sévère des muscles squelettiques, bulbaires et respiratoires, de multiples contractures en flexion et des taux sériques de créatine kinase normaux. Sur le plan de l'ultrastructure, s'observent une perte de l'intégrine alpha7, de la bêta2-syntrophine et de l'alpha-dystrobrévine dans le sarcolemme musculaire, ainsi qu'une perturbation des sarcomères et une désorganisation de la bande Z."},"de":{"name":"Myopathie, letale, kongenitale, Typ Compton-North"},"es":{"name":"Miopatía congénita letal tipo Compton-North","definition":"La miopatía congénita letal tipo Compton-North, es una miopatía congénita no distrófica, letal, de base genética y poco frecuente, caracterizada por acinesia fetal prenatal, restricción del crecimiento intrauterino y polihidramnios y, postnatalmente, por hipotonía neonatal grave, debilidad generalizada grave de la musculatura respiratoria, bulbar y esquelética, contracturas múltiples en flexión y niveles séricos normales de creatinquinasa. A nivel de ultraestructura, se observa en el músculo una pérdida de integrina alfa-7, beta2-sintrofina y alfa-distrobrevina en el sarcolema muscular, así como alteración de los sarcómeros con desorganización de la banda Z."},"it":{"name":"Miopatia letale congenita, tipo Compton-North","definition":"La miopatia letale congenita tipo Compton-North è una miopatia genetica rara congenita non distrofica letale, caratterizzata, in epoca prenatale, da acinesia fetale, ritardo della crescita e polidramnios; dopo la nascita i neonati presentano grave ipotonia, spiccata debolezza generalizzata dei muscoli scheletrici, bulbari e respiratori, contratture multiple in flessione e livelli normali di creatin-chinasi nel siero. A livello ultrastrutturale, si osserva la perdita dal sarcolemma muscolare di integrina alfa 7, beta2-sintrofina e alfa-distrobrevina e la compromissione dei sarcomeri con disorganizzazione della linea Z."},"nl":{"name":"Congenitale letale myopathie, Compton-North-type","definition":"Congenitale letale myopathie, Compton-North-type is een zeldzame, genetische, letale, niet-dystrofische congenitale myopathie die prenataal gekarakteriseerd wordt door foetale akinesie, intra-uteriene groeirestrictie en polyhydramnion, en na de geboorte door ernstige neonatale hypotonie, ernstige gegeneraliseerde zwakte van skelet-, bulbaire en ademhalingsspieren, multipele flexiecontracturen, en normale gehaltes van creatinekinase in het serum. Ultrastructureel worden verlies van integrine alfa7, bèta2-syntrofine en alfa-dystrobrevine uit het sarcolemma van de spieren en verstoring van sarcomeren met desorganisatie van de Z-lijn waargenomen."},"pt":{"name":"Miopatia letal congénita, tipo Compton-North"},"pl":{"name":"Wrodzona śmiertelna miopatia, typu Comptona i Northa","definition":"*Wrodzona letalna miopatia typu Comptona i Northa jest rzadką, genetycznie uwarunkowaną, letalną niedystroficzną wrodzoną miopatią, która charakteryzuje się akinezą płodu, wewnątrzmacicznym zahamowaniem wzrastania i wielowodziem, a po urodzeniu ciężką hipotonią noworodkową, ciężkim uogólnionym osłabieniem mięśni szkieletowych, opuszkowych i oddechowych, licznymi przykurczami zgięciowymi i prawidłowym stężeniem kinazy kreatyninowej w surowicy. W badaniu ultrastrukturalnym komórki mięśniowej obserwuje się brak integryny alfa7, beta2-syntrofiny i alfa-dystrobrewiny w sarkolemmie mięśniowej oraz uszkodzenie sarkomerów z dezorganizacją prążka Z.inf brsup inf brsup"},"cs":{"name":"Vrozená letální myopatie, typ Comptonové-Northové","synonyms":["Vrozená letální myopatie, typ Compton-Northové"]},"uk":{"name":"Вроджена летальна міопатія типу Комптона-Норта","definition":"Congenital lethal myopathy, Compton-North type is a rare, genetic, lethal, non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed."},"zh":{"name":"康普顿北部型先天性致死性肌病","definition":"康普顿-北型先天性致死性肌病是一种罕见的遗传性先天性肌疾，具有致命性和非营养不良性的特点。患儿产前常发生宫内生长受限，胎儿运动障碍和羊水过多，患儿生后表现为新生儿严重张力低下，全身骨骼肌、延髓肌、呼吸肌严重肌无力，多发性屈曲挛缩，血清肌酸激酶水平正常。超微结构上，可观察到肌肉肌膜上整合素α7、β2-互生蛋白和α-肌养蛋白缺失，肌节中断及Z带破坏。"},"tr":{"name":"Doğumsal letal miyopati, Compton-North tipi"}},"xrefs":[{"source":"OMIM","code":"612540","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0012929","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4750773","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":1037,"name":"Arthrogryposis multiplex congenita","classifications":[147,156]},{"orpha":97245,"name":"Congenital myopathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"CNTN1","name":"contactin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19026398[PMID]","hgnc":"2171","ensembl":"ENSG00000018236","omim":"600016","loci":["12q12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"19026398[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19026398[PMID]"}],"phenotypes":null}