{"orpha":43393,"name":"Lambert-Eaton myasthenic syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune, presynaptic disorder of neuromuscular transmission characterized by fluctuating muscle weakness and autonomic dysfunction frequently associated with small-cell lung cancer (SCLC).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-43393/","orphanet_url":"https://www.orpha.net/en/disease/detail/43393","names":{"fr":{"name":"Syndrome myasthénique de Lambert-Eaton","definition":"Le syndrome myasthénique de Lambert-Eaton (SMLE) est un trouble auto-immun, pré-synaptique de la transmission neuromusculaire caractérisé par une faiblesse musculaire fluctuante et un dysfonctionnement du système nerveux autonome fréquemment associés à un cancer du poumon à petites cellules (CPPC)."},"de":{"name":"Lambert-Eaton-Myasthenie-Syndrom","definition":"Das Lambert-Eaton-Myasthenie-Syndrom (LEMS) ist eine Autoimmunkrankheit mit im Muskel gestörter präsynaptischer Neurotransmission. Charakteristische Zeichen sind wechselnde Muskelschwäche, vegetative Störungen und kleinzelliges Bronchialkarzinom (SCLC)."},"es":{"name":"Síndrome miasténico de Lambert-Eaton","definition":"El síndrome miasténico de Lambert-Eaton (LEMS) es un trastorno presináptico autoinmune de transmisión neuromuscular caracterizado por una debilidad muscular fluctuante y una disfunción neurovegetativa, y va asociado con frecuencia al carcinoma microcítico de pulmón (SCLC)."},"it":{"name":"Sindrome miastenica di Lambert-Eaton","definition":"La sindrome miastenica di Lambert-Eaton (LEMS) è un difetto presinaptico autoimmune della trasmissione neuromuscolare, caratterizzato da debolezza muscolare fluttuante e disfunzione del sistema nervoso autonomo, associate spesso al cancro polmonare a piccolo cellule (SCLC)."},"nl":{"name":"Myastheen syndroom van Lambert-Eaton","definition":"Lambert-Eaton myastheen syndroom (LEMS) is een auto-immune, presynaptische aandoening van neuromusculaire transmissie die wordt gekarakteriseerd door fluctuerende spierzwakheid en autonome stoornissen, en is vaak geassocieerd met kleincellige longkanker (SCLC)."},"pt":{"name":"Síndrome miasténico de Lambert-Eaton","definition":"A Síndrome de Lambert-Eaton é uma doença neuromuscular paraneoplásica na qual uma resposta auto-imune, dirigida contra um tumor do pulmão de células pequenas, produz uma reação cruzada com antigénios na junção neuromuscular."},"pl":{"name":"Zespół miasteniczny Lamberta i Eatona"},"cs":{"name":"Lambertův-Eatonův myastenický syndrom","synonyms":["Lambert-Eatonův myastenický syndrom"]},"uk":{"name":"Міастенічний синдром Ламберта-Ітона","definition":"Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune, presynaptic disorder of neuromuscular transmission characterized by fluctuating muscle weakness and autonomic dysfunction frequently associated with small-cell lung cancer (SCLC)."},"zh":{"name":"Lambert-Eaton肌无力综合征"},"tr":{"name":"Lambert-Eaton miyastenik sendromu"}},"xrefs":[{"source":"ICD-10","code":"G73.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"8C62","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"796417193"},{"source":"MONDO","code":"0018556","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D015624","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0022972","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6851","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10067685","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98750,"name":"Autoimmune neurological channelopathy","classifications":[181]},{"orpha":464764,"name":"Immune-mediated acquired neuromuscular junction disease","classifications":[181]},{"orpha":36388,"name":"Paraneoplastic neurologic syndrome","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.06,"area":"Netherlands","status":"Validated","source":"22094130[PMID]_23690300[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Europe","status":"Validated","source":"European Medicines Agency[OTHER]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.35,"area":"Worldwide","status":"Validated","source":"22094130[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-10-04","source":"22094130[PMID]","terms":[{"hpo":"HP:0012332","label":"Abnormal autonomic nervous system physiology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030209","label":"Calcium channel antibody positivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003403","label":"EMG: decremental response of compound muscle action potential to repetitive nerve stimulation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030000","label":"EMG: repetitive nerve stimulation abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009073","label":"Progressive proximal muscle weakness","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000217","label":"Xerostomia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000315","label":"Abnormality of the orbital region","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:5000027","label":"Anti-P/Q-type VGCC antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002483","label":"Bulbar signs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000802","label":"Impotence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030357","label":"Small cell lung carcinoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000966","label":"Hypohidrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001097","label":"Keratoconjunctivitis sicca","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004926","label":"Orthostatic hypotension due to autonomic dysfunction","frequency":"Occasional (29-5%)","criteria":null}]}}