{"orpha":641,"name":"Multifocal motor neuropathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MMN","MMNCB","Multifocal motor neuropathy with conduction block"],"definition":"Multifocal motor neuropathy (MMN) is a rare acquired immune-mediatedneuropathy characterized clinically by a purely motor deficit with conduction block and asymmetric multifocal weakness, fasciculations, and cramping.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-641/","orphanet_url":"https://www.orpha.net/en/disease/detail/641","names":{"fr":{"name":"Neuropathie motrice multifocale","synonyms":["MMN","MMNCB","NMMBC","Neuropathie motrice multifocale à bloc de conduction"],"definition":"Neuropathie acquise rare à médiation immunitaire caractérisée sur le plan clinique par un déficit moteur pur avec bloc de conduction et faiblesse multifocale asymétrique, fasciculations et crampes."},"de":{"name":"Multifokale motorische Neuropathie","synonyms":["MMN","MMNCB","Neuropathie, motorische multifokale mit Reizleitungs-Störung"],"definition":"Die multifokale motorische Neuropathie (MMN) ist eine seltene erworbene immunvermittelte Neuropathie, die klinisch durch ein rein motorisches Defizit mit Leitungsblockade und asymmetrischer multifokaler Schwäche, Faszikulationen und Krämpfen gekennzeichnet ist."},"es":{"name":"Neuropatía motora multifocal","synonyms":["MMN","MMNCB","Neuropatía motora multifocal con bloqueos de la conducción"],"definition":"Es una neuropatía inmunomediada adquirida y poco frecuente caracterizada clínicamente por un déficit puramente motor, con bloqueo de la conducción y debilidad asimétrica multifocal, fasciculaciones y calambres."},"it":{"name":"Neuropatia motoria multifocale","synonyms":["MMN","MMNCB","Neuropatia motoria multifocale con blocco di conduzione"],"definition":"La neuropatia motoria multifocale (MMN) è una neuropatia acquisita immuno-mediata caratterizzata, dal punto di vista clinico, da deficit motorio puro con blocco della conduzione e debolezza multifocale asimmetrica, fascicolazioni e crampi."},"nl":{"name":"Multifocale motorische neuropathie","synonyms":["MMN","MMNCB","Multifocale motorische neuropathie met geleidingsblok"],"definition":"Multifocale motorische neuropathie (MMN) is een zeldzame, verworven, immuungemedieerde neuropathie die klinisch gekarakteriseerd wordt door een zuiver motorisch gebrek met geleidingsblok en asymmetrische multifocale zwakte, fasciculaties en krampen."},"pt":{"name":"Neuropatia motora multifocal com bloqueio de condução"},"pl":{"name":"Wieloogniskowa neuropatia ruchowa","synonyms":["MMN","MMNCB","Wieloogniskowa neuropatia ruchowa z blokiem przewodzenia"]},"cs":{"name":"Multifokální motorická neuropatie","synonyms":["MMN","MMNCB","Multifokální motorická neuropatie s blokem vedení"]},"uk":{"name":"Мультифокальна моторна нейропатія","synonyms":["MMN","MMNCB","Мультифокальна моторна нейропатія з блокадою провідності"],"definition":"Multifocal motor neuropathy (MMN) is a rare acquired immune-mediatedneuropathy characterized clinically by a purely motor deficit with conduction block and asymmetric multifocal weakness, fasciculations, and cramping."},"zh":{"name":"多灶性运动神经病","synonyms":["多灶性运动神经病伴传导阻滞"]},"tr":{"name":"Multifokal motor nöropati","synonyms":["MMN","MMNCB","İletim bloklu multifokal motor nöropati"]}},"xrefs":[{"source":"ICD-10","code":"G61.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C01.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"9104732"},{"source":"MONDO","code":"0018979","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0393847","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"11011","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10065579","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":208974,"name":"Chronic acquired demyelinating polyneuropathy","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.5,"area":"Worldwide","status":"Validated","source":"17075524[PMID]_11282149[PMID]_23623583[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.16,"area":"Japan","status":"Validated","source":"23196468[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-02-01","source":"24741315[PMID]_24395647[PMID]","terms":[{"hpo":"HP:0009063","label":"Progressive distal muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004345","label":"Abnormality of ganglioside metabolism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002380","label":"Fasciculations","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0004302","label":"Functional motor deficit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002922","label":"Increased CSF protein concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003690","label":"Limb muscle weakness","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0006251","label":"Limited wrist extension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012078","label":"Motor conduction block","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003323","label":"Progressive muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0009077","label":"Weakness of long finger extensor muscles","frequency":"Frequent (79-30%)","criteria":null}]}}