{"orpha":466775,"name":"Autosomal recessive Charcot-Marie-Tooth disease type 2X","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation","CMT2X","ARCMT2X"],"definition":"A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by childhood to adult onset of slowly progressive, sometimes asymmetric distal muscle weakness and atrophy, as well as sensory impairment, predominantly of the lower limbs. Additional common features include pes cavus, kyphoscoliosis, ankle contractures, tremor, or urogenital dysfunction. Fasciculations and proximal involvement may be seen in some cases. Patients usually remain ambulatory.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-466775/","orphanet_url":"https://www.orpha.net/en/disease/detail/466775","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth autosomique récessive type 2X","synonyms":["ARCMT2X","CMT2X","Maladie de Charcot-Marie-Tooth autosomique récessive type 2 due à une mutation de SPG11"],"definition":"Neuropathie sensitivo-motrice héréditaire axonale autosomique récessive rare, caractérisée par l'apparition, entre l'enfance à l'âge adulte, d'une faiblesse et d'une atrophie musculaires distales lentement progressives, parfois asymétriques, ainsi que d'une déficience sensorielle, touchant principalement les membres inférieurs. Parmi les autres signes communément présents, on peut citer le pied creux, la cyphoscoliose, les contractures de la cheville, les tremblements ou les anomalies urogénitales. Des fasciculations et une atteinte proximale peuvent être observées dans certains cas. Les patients sont généralement capables de déambuler."},"de":{"name":"Charcot-Marie-Tooth-Krankheit, autosomal-rezessive, Typ 2X","synonyms":["ARCMT2X","CMT2X","Charcot-Marie-Tooth-Krankheit, autosomal-rezessive, Typ 2, SPG11-assoziierte"],"definition":"Eine autosomal-rezessive hereditäre motorisch-sensorische axonale Neuropathie, die durch eine langsam progrediente, manchmal asymmetrische distale Muskelschwäche und -atrophie sowie Sensibilitätsstörungen, vor allem der unteren Extremitäten, gekennzeichnet ist und von der Kindheit bis zum Erwachsenenalter auftritt. Weitere häufige Merkmale sind Pes cavus, Kyphoskoliose, Knöchelkontrakturen, Tremor und urogenitale Dysfunktion. In einigen Fällen können Faszikulationen und eine proximale Beteiligung beobachtet werden. Die Patienten bleiben in der Regel gehfähig."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth autosómica recesiva tipo 2X","synonyms":["ARCMT2X","CMT2X","Enfermedad de Charcot-Marie-Tooth autosómica recesiva tipo 2 por una mutación en el gen SPG11"],"definition":"Es una neuropatía axonal sensitivo-motora hereditaria autosómica recesiva poco frecuente. Está caracterizada por el inicio entre la infancia y la edad adulta de debilidad y atrofia muscular distal, en ocasiones asimétrica, lentamente progresiva, así como un trastorno sensitivo, predominantemente de las extremidades inferiores. Otros hallazgos adicionales frecuentes incluyen pie cavo, cifoescoliosis, contracturas de los tobillos, temblor o disfunción urogenital. En algunos casos se pueden observar fasciculaciones y afectación proximal. Los pacientes suelen mantener la deambulación."},"it":{"name":"Malattia di Charcot-Marie-Tooth autosomica recessiva tipo 2X","definition":"Si tratta di una neuropatia sensitivo-motoria assonale ereditaria rara, a trasmissione autosomica recessiva, che esordisce tra l'infanzia e l'età adulta con debolezza e atrofia dei muscoli distali, talvolta asimmetrica e a progressione lenta, e con deficit sensoriale, che interessa per lo più gli arti inferiori. Altri segni clinici comuni sono il piede cavo, la cifoscoliosi, le contratture delle caviglie, i tremori e la disfunzione urogenitale. Alcuni pazienti presentano fascicolazioni e un interessamento prossimale. In genere i pazienti mantengono la capacità di camminare."},"nl":{"name":"Autosomaal recessieve ziekte van Charcot-Marie-Tooth type 2X","synonyms":["ARCMT2X","Autosomaal recessieve ziekte van Charcot-Marie-Tooth type 2 als gevolg van een SPG11-mutatie","CMT2X"],"definition":"Een zeldzame, autosomaal recessieve axonale hereditaire motorische en sensorische neuropathie, gekarakteriseerd door aanvang in de kindertijd tot de volwassenheid van traag progressieve, soms asymmetrische zwakte en atrofie van distale spieren, alsook sensorische stoornis, voornamelijk van onderste ledematen. Bijkomende gangbare kenmerken zijn onder meer pes cavus, kyfoscoliose, contracturen van enkel, tremor, of urogenitale disfunctie. In sommige gevallen kunnen ook fasciculaties en proximale betrokkenheid waargenomen worden. Patiënten blijven doorgaans ambulant."},"pt":{"name":"Doença de Charcot-Marie-Tooth autossómica recessiva tipo 2X"},"pl":{"name":"Autosomalna recesywna choroba Charcota, Mariego i Tootha typu 2X","synonyms":["ARCMT2X","Autosomalna recesywna choroba Charcota, Mariego i Tootha typu 2 spowodowana SPG11","CMT2X"]},"cs":{"name":"Autozomálně recesivní Charcot-Marie-Toothova nemoc, typ 2X","synonyms":["CMT2X","ARCMT2X","Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation","Autozomálně recesivní Charcot-Marie-Toothova choroba typu 2 způsobená mutací SPG11"]},"uk":{"name":"Аутосомно-рецесивна хвороба Шарко-Марі-Тута, тип 2X","synonyms":["ARCMT2X","Аутосомно-рецесивна хвороба Шарко-Марі-Тута 2 типу, зумовлена мутацією SPG11","CMT2X"],"definition":"A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by childhood to adult onset of slowly progressive, sometimes asymmetric distal muscle weakness and atrophy, as well as sensory impairment, predominantly of the lower limbs. Additional common features include pes cavus, kyphoscoliosis, ankle contractures, tremor, or urogenital dysfunction. Fasciculations and proximal involvement may be seen in some cases. Patients usually remain ambulatory."},"zh":{"name":"常染色体隐性Charcot-Marie-Tooth病2X型","synonyms":["SPG11突变导致的常染色体隐性Charcot-Marie-Tooth病2型"],"definition":"一种罕见的常染色体隐性轴索性遗传性运动和感觉神经病，其特征是儿童到成人开始出现缓慢进行性、有时不对称的远端肌肉无力和萎缩，以及感觉障碍，主要是下肢。其他常见的特征包括高弓足、脊柱后凸侧弯、踝关节挛缩、震颤或泌尿生殖系统功能障碍。在某些病例中，可见到肌束震颤和近端受累。患者通常保持卧床休息。"},"tr":{"name":"Otozomal resesif Charcot-Marie-Tooth hastalığı tipi 2X","synonyms":["CMT2X","ARCMT2X","SPG11 mutasyonuna bağlı otozomal çekinik Charcot-Marie-Tooth hastalığı tip 2"]}},"xrefs":[{"source":"OMIM","code":"616668","qualifier":"E","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":"0014726","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5569024","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98036,"name":"Rare otorhinolaryngologic disease"},"parents":[{"orpha":91024,"name":"Autosomal recessive axonal hereditary motor and sensory neuropathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SPG11","name":"SPG11 vesicle trafficking associated, spatacsin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26556829[PMID]","hgnc":"11226","ensembl":"ENSG00000104133","omim":"610844","loci":["15q21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":29.0,"area":"Worldwide","status":"Validated","source":"26556829[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26556829[PMID]"}],"phenotypes":null}