{"orpha":497757,"name":"MME-related autosomal dominant Charcot Marie Tooth disease type 2","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MME-related autosomal dominant CMT2","MME-related autosomal dominant hereditary motor and sensory neuropathy type 2"],"definition":"A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment, and hyporeflexia beginning in the lower limbs. Progressive gait disturbance may lead to loss of independent ambulation in some patients at a higher age.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-497757/","orphanet_url":"https://www.orpha.net/en/disease/detail/497757","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth autosomique dominante type 2 associée à MME","synonyms":["CMT2 autosomique dominante associée à MME","Neuropathie sensitivo-motrice héréditaire autosomique dominante type 2 associée à MME"],"definition":"Neuropathie sensitivo-motrice axonale héréditaire autosomique dominante rare caractérisée par l'apparition, à l'âge adulte, d'une faiblesse et d'une atrophie musculaires distales lentement progressives, ainsi que par une déficience sensorielle et une hyporéflexie débutant dans les membres inférieurs. À un âge plus avancé, les troubles progressifs de la marche peuvent entraîner la perte de l'autonomie de la marche chez certains patients."},"de":{"name":"Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2, durch MME-Genmutation","synonyms":["CMT2, autosomal-dominante, MME-assoziierte","Neuropathie, hereditäre motorisch-sensorische, Typ 2, autosomal-dominante, MME-assoziierte"],"definition":"Eine autosomal-dominante motorisch-sensorische axonale Neuropathie, die sich im Erwachsenenalter durch langsam fortschreitende distale Muskelschwäche und -atrophie, sensorische Beeinträchtigung und Hyporeflexie, beginnend in den unteren Gliedmaßen, auszeichnet. Eine fortschreitende Gangstörung kann bei einigen Patienten in höherem Alter zum Verlust des selbstständigen Gehens führen."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2 asociada al gen MME","definition":"Es una neuropatía axonal sensitivo-motora hereditaria autosómica dominante poco frecuente, caracterizada por el inicio en la edad adulta de debilidad y atrofia muscular distal lentamente progresiva, trastorno sensitivo e hiporreflexia que comienza en las extremidades inferiores. La alteración progresiva de la marcha puede derivar en la pérdida de la deambulación independiente en algunos pacientes de edad más avanzada."},"it":{"name":"Malattia di Charcot Marie Tooth autosomica dominante tipo 2 correlata a MME","definition":"Si tratta di una neuropatia sensitivo-motoria assonale ereditaria rara, a trasmissione autosomica dominante, che esordisce nell'età adulta con debolezza e atrofia dei muscoli distali a progressione lenta, deficit sensoriali e iporeflessia, che si manifesta inizialmente negli arti inferiori. In alcuni pazienti, le anomalie progressive dell'andatura possono esitare nella perdita della deambulazione autonoma nell'età avanzata."},"nl":{"name":"MME-gerelateerde autosomaal dominante ziekte van Charcot-Marie-Tooth type 2","synonyms":["MME-gerelateerde autosomaal dominante CMT2","MME-gerelateerde autosomaal dominante erfelijke motorische en sensorische neuropathie type 2"],"definition":"Een zeldzame, autosomaal dominante hereditaire axonale motorische en sensorische neuropathie, gekarakteriseerd door aanvang in de volwassenheid van traag progressieve distale spierzwakte en -atrofie, sensorische stoornis, en hyporeflexie, met aanvang in onderste ledematen. Progressieve gangstoornis kan bij sommige patiënten op oudere leeftijd leiden tot verlies van zelfstandig loopvermogen."},"pt":{"name":"Doença de Charcot-Marie-Tooth tipo 2 autossómica dominante MME-relacionada"},"pl":{"name":"Autosomalnie dominująca choroba Charcota, Mariego i Tootha związana z MME typu 2","synonyms":["CMT2 autosomalna dominujaca związana z MME","Autosomalna dominująca dziedziczna neuropatia ruchowo-czuciowa typu 2 związana z MME"]},"cs":{"name":"MME-vázaná autozomálně dominantní Charcot-Marie-Tooth typ 2","synonyms":["MME-related autosomal dominant CMT2","MME-related autosomal dominant hereditary motor and sensory neuropathy type 2","MME-vázaná autozomálně dominantní CMT2","Autozomálně dominantní dědičná motorická a senzorická neuropatie typu 2 související s MME"]},"uk":{"name":"ММЕ-асоційована аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2","synonyms":["Повязаний з ММЕ аутосомно-домінантний CMT2","Спадкова моторна та сенсорна нейропатія 2 типу, повязана з ММЕ, з аутосомно-домінантним типом успадкування"],"definition":"A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment, and hyporeflexia beginning in the lower limbs. Progressive gait disturbance may lead to loss of independent ambulation in some patients at a higher age."},"zh":{"name":"MME相关常染色体显性Charcot-Marie-Tooth病2型","synonyms":["MME相关常染色体显性遗传性运动和感觉神经病2型"],"definition":"一种罕见的常染色体显性遗传性轴索运动和感觉神经病，特点是成年后开始出现缓慢进行性远端肌肉无力和萎缩、感觉障碍和下肢反射减弱。进行性步态障碍可导致部分患者在较高年龄时丧失独立行走能力。"},"tr":{"name":"MME -ilişkili otozomal dominant Charcot Marie Tooth hastalığı tip 2","synonyms":["MME-ilişkili otozomal baskın CMT2","MME-ilişkili otozomal baskın kalıtsal motor ve duyusal nöropati tip 2"]}},"xrefs":[{"source":"OMIM","code":"617017","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C20.1","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0044657","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5567450","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":64746,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2","classifications":[156,181]},{"orpha":622914,"name":"Rare genetic nevus","classifications":[156]},{"orpha":294057,"name":"Rare nevus","classifications":[187,202]}],"children":[],"genes":[{"symbol":"MME","name":"membrane metalloendopeptidase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"27588448[PMID]","hgnc":"7154","ensembl":"ENSG00000196549","omim":"120520","loci":["3q25.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":19.0,"area":"Worldwide","status":"Validated","source":"27588448[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27588448[PMID]"}],"phenotypes":null}