{"orpha":217055,"name":"Autosomal recessive intermediate Charcot-Marie-Tooth disease type A","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["RI-CMT type A"],"definition":"A subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-217055/","orphanet_url":"https://www.orpha.net/en/disease/detail/217055","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth intermédiaire autosomique récessive type A","synonyms":["RI-CMT type A"],"definition":"Sous-type de la maladie de Charcot-Marie-Tooth (CMT) autosomique récessive intermédiaire caractérisée par une neuropathie CMT sévère, apparaissant tôt dans l'enfance, accompagnée d'une déformation importante à type de pied-bot et d'une faiblesse des muscles de la main. Les vitesses de conduction nerveuse se situent généralement entre 25 et 35 m/s et des lésions axonales et démyélinisantes sont observées dans les neuropathies périphériques."},"de":{"name":"Charcot-Marie-Tooth-Krankheit, autosomal-rezessive, intermediäre, Typ A"},"es":{"name":"Enfermedad de Charcot-Marie-Tooth intermedia autosómica recesiva tipo A","synonyms":["RI-CMT tipo A"],"definition":"Es un subtipo de la enfermedad de Charcot-Marie-Tooth (CMT) intermedia autosómica recesiva , que cursa de forma grave en la infancia temprana, con una destacada malformación en equinovaro y discapacidad de los músculos de la mano. Las velocidades de conducción nerviosa suelen oscilar entre 25 y 35 m/s y, en la patología del nervio periférico, se observan alteraciones tanto axonales como desmielinizantes."},"it":{"name":"Malattia di Charcot-Marie-Tooth autosomica recessiva intermedia tipo A","synonyms":["RI-CMT, tipo A"],"definition":"La malattia di Charcot-Marie-Tooth autosomica recessiva intermedia tipo A è un sottotipo della malattia di Charcot-Marie-Tooth (CMT) autosomica recessiva intermedia, che esordisce nella prima infanzia con neuropatia grave, associata a piedi marcatamente equino-vari e deficit dei muscoli delle mani. La velocità di conduzione dei nervi di solito è compresa tra 25 e 35 m/s. L'esame istologico dei nervi periferici evidenzia alterazioni assonali e demielinizzanti."},"nl":{"name":"Autosomaal recessieve intermediaire ziekte van Charcot-Marie-Tooth type A","synonyms":["RI-CMT type A"],"definition":"Een subtype van autosomaal recessieve intermediaire ziekte van Charcot-Marie-Tooth (CMT), gekarakteriseerd door ernstige, in de vroege kindertijd aanvangende CMT-neuropathie met prominente pes equinovarus misvorming (klompvoet) en aantasting van handspieren. De zenuwgeleidingssnelheden liggen meestal tussen 25-35 m/s, en bij pathologisch onderzoek van perifere zenuwen worden zowel axonale als demyeliniserende veranderingen waargenomen."},"pt":{"name":"Doença de Charcot-Marie-Tooth intermédia autossómica recessiva tipo A"},"pl":{"name":"Autosomalna recesywna pośrednia choroba Charcota, Mariego i Tootha typu A","synonyms":["RI-CMT typu A"]},"cs":{"name":"Autozomálně recesivní středně pokročilá Charcotova-Marieova-Toothova nemoc, typ A","synonyms":["RI-CMT typ A","Autozomálně recesivní středně pokročilá Charcot-Marie-Toothova nemoc, typ A"]},"uk":{"name":"Аутосомно-рецесивна помірно виражена хвороба Шарко-Марі-Тута, тип А","synonyms":["RI-CMT тип A"],"definition":"A subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology."},"zh":{"name":"常染色体隐性遗传中间型夏科-马里-图斯病6型","synonyms":["RI-CMT A型"],"definition":"一种常染色体隐性中间型夏科-马里-图斯病（Charcot-Marie-Tooth，CMT）的一种亚型，其特征是严重的、儿童早期发病的CMT神经病变，伴有显著的马蹄内翻足畸形和手部肌肉损伤。神经传导速度通常在25-35m/s之间，周围神经病理变化中可以观察到轴突和脱髓鞘改变。"},"tr":{"name":"Otozomal resesif geçişli Charcot-Marie-Tooth hastalığı tip A","synonyms":["RI-CMT A tipi"]}},"xrefs":[{"source":"OMIM","code":"608340","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C20.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"173329397"},{"source":"MONDO","code":"0012014","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4750774","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":268337,"name":"Autosomal recessive intermediate Charcot-Marie-Tooth disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"GDAP1","name":"ganglioside induced differentiation associated protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12566285[PMID]_12499475[PMID]","hgnc":"15968","ensembl":"ENSG00000104381","omim":"606598","loci":["8q21.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}