{"orpha":590,"name":"Congenital myasthenic syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMS"],"definition":"A rare genetic neuromuscular disease characterized by impaired transmission at the neuromuscular junction, typically presenting in infancy or childhood, although later onset is possible. The hallmark symptom is muscle fatigability, frequently accompanied by ocular manifestations (ptosis, ophthalmoparesis), bulbar involvement (dysphagia), a generalized weakness, which can lead to potentially life-threatening respiratory insufficiency.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-590/","orphanet_url":"https://www.orpha.net/en/disease/detail/590","names":{"fr":{"name":"Syndrome myasthénique congénital","synonyms":["CMS","SMC"],"definition":"Maladie neuromusculaire génétique rare caractérisée par une altération de la transmission au niveau de la jonction neuromusculaire se manifestant généralement pendant la petite enfance ou l'enfance, bien qu'une apparition plus tardive soit possible. Le symptôme caractéristique est une fatigabilité musculaire, souvent accompagnée de manifestations oculaires (ptosis, ophtalmoparésie), d'une atteinte bulbaire (dysphagie) et d'une faiblesse généralisée, pouvant entraîner une insuffisance respiratoire engageant potentiellement le pronostic vital."},"de":{"name":"Kongenitales myasthenes Syndrom","synonyms":["CMS"],"definition":"Eine seltene genetisch bedingte neuromuskuläre Erkrankung, die durch eine gestörte neuromuskulären Übertragung an der motorischen Endplatte gekennzeichnet ist und typischerweise im Säuglings- oder Kindesalter auftritt, obwohl auch ein späterer Ausbruch möglich ist. Das charakteristische Symptom ist Muskelermüdbarkeit, häufig begleitet von Augenbeschwerden (Ptosis, Ophthalmoparese), bulbärer Beteiligung (Dysphagie) und einer generalisierten Schwäche, die zu einer potenziell lebensbedrohlichen Ateminsuffizienz führen kann."},"es":{"name":"Síndrome miasténico congénito","synonyms":["SMC"],"definition":"Es un grupo de trastornos genéticos por alteración de la transmisión neuromuscular en la placa motora terminal caracterizados por debilidad y fatiga muscular."},"it":{"name":"Sindrome miastenica congenita","synonyms":["CMS"],"definition":"La sindrome miastenica congenita (CMS) comprende un gruppo di malattie genetiche con compromissione della trasmissione neuromuscolare a livello delle placche motrici. È caratterizzata da debolezza muscolare con affaticamento."},"nl":{"name":"Congenitaal myastheen syndroom","synonyms":["CMS"],"definition":"Een zeldzame genetische neuromusculaire aandoening, gekenmerkt door verstoorde transmissie ter hoogte van de neuromusculaire overgang, doorgaans met presentatie in de zuigelingentijd of kindertijd, maar latere aanvang is mogelijk. Het kenmerkende symptoom is vermoeibaarheid van spieren, vaak gepaard met oculaire manifestaties (ptosis, oftalmoparese), bulbaire betrokkenheid (dysfagie), en gegeneraliseerde zwakte die kan leiden tot potentieel levensbedreigende respiratoire insufficiëntie."},"pt":{"name":"Síndromes miasténicos congénitos"},"pl":{"name":"Wrodzony zespół miasteniczny","synonyms":["CMS"]},"cs":{"name":"Vrozený myastenický syndrom","synonyms":["CMS"]},"uk":{"name":"Вроджений міастенічний синдром","synonyms":["CMS"],"definition":"Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness."},"zh":{"name":"先天性肌无力综合征","synonyms":["CMS"]},"tr":{"name":"Doğumsal miyastenik sendrom","synonyms":["CMS"]}},"xrefs":[{"source":"OMIM","code":"254190","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"254210","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"254300","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"601462","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"603034","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"605809","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"608930","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"608931","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610542","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614198","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614750","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615120","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616040","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616224","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616227","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616228","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616304","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616313","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616314","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616321","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616322","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616323","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616324","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616325","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616326","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616330","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616720","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617143","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617239","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618197","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618198","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618323","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619461","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620451","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"621455","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G70.2","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"8C61","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1515367530"},{"source":"MONDO","code":"0018940","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D020294","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0751882","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"11902","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10083942","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":98124,"name":"OBSOLETE: Channelopathy due to a skeletal muscle acetylcholine receptor defect","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98495,"name":"Genetic neuromuscular junction disease","classifications":[156,181]},{"orpha":98578,"name":"Rare disorder with ptosis","classifications":[147,156,189]},{"orpha":522522,"name":"Rare genetic neuromuscular disorder with ocular motility/alignment anomaly","classifications":[156]},{"orpha":519347,"name":"Rare neuromuscular disorder with ocular motility/alignment anomaly","classifications":[189]}],"children":[{"orpha":716913,"name":"Congenital myasthenic syndrome associated with ubiquitously expressed proteins","type":"Etiological subtype"},{"orpha":98913,"name":"Postsynaptic congenital myasthenic syndrome","type":"Etiological subtype"},{"orpha":98914,"name":"Presynaptic congenital myasthenic syndrome","type":"Etiological subtype"},{"orpha":98915,"name":"Synaptic congenital myasthenic syndrome","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"COL13A1","name":"collagen type XIII alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26626625[PMID]","hgnc":"2190","ensembl":"ENSG00000197467","omim":"120350","loci":["10q22.1"],"via":{"orpha":98915,"name":"Synaptic congenital myasthenic syndrome"}},{"symbol":"COLQ","name":"collagen like tail subunit of asymmetric acetylcholinesterase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301347[PMID]","hgnc":"2226","ensembl":"ENSG00000206561","omim":"603033","loci":["3p25.1"],"via":{"orpha":98915,"name":"Synaptic congenital myasthenic syndrome"}},{"symbol":"LAMB2","name":"laminin subunit beta 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) 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(99-80%)","criteria":null},{"hpo":"HP:0003473","label":"Fatigable weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004661","label":"Frontalis muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004889","label":"Intermittent episodes of respiratory insufficiency due to muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000467","label":"Neck muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002033","label":"Poor suck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003701","label":"Proximal muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002882","label":"Sudden episodic apnea","frequency":"Very frequent 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polyneuropathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002870","label":"Obstructive sleep apnea","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005943","label":"Respiratory arrest","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0025401","label":"Staring gaze","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030208","label":"Acetylcholine receptor antibody positivity","frequency":"Excluded (0%)","criteria":null}]}}