{"orpha":369867,"name":"Autosomal recessive intermediate Charcot-Marie-Tooth disease type C","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["RI-CMT type C"],"definition":"A rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-369867/","orphanet_url":"https://www.orpha.net/en/disease/detail/369867","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth intermédiaire autosomique récessive type C","synonyms":["RI-CMT type C"],"definition":"Sous-type rare de la maladie de Charcot-Marie-Tooth (CMT) autosomique récessive intermédiaire caractérisée par l'apparition, entre l'enfance et l'âge adulte, d'une faiblesse et d'une atrophie musculaires progressives, modérées à sévères, à prédominance distale, principalement des membres inférieurs, de déformations du pied (y compris les pieds creux et les orteils en marteau), d'une absence de réflexes tendineux profonds et d'une perte sensorielle distale associée à une diminution des vitesses de conduction nerveuse motrice et sensorielle et à des caractéristiques de neuropathie démyélinisante et axonale identifiées à la biopsie du nerf sural."},"de":{"name":"Charcot-Marie-Tooth-Krankheit, autosomal-rezessive, intermediäre, Typ C","synonyms":["RI-CMT Typ C"]},"es":{"name":"Enfermedad de Charcot-Marie-Tooth intermedia autosómica recesiva tipo C","synonyms":["RI-CMT tipo C"],"definition":"Es un subtipo poco frecuente de la enfermedad de Charcot-Marie-Tooth (CMT) intermedia autosómica recesiva caracterizada por el inicio desde la infancia hasta la edad adulta, de debilidad y atrofia muscular progresiva, de moderada a grave, predominantemente distal, mayoritariamente de miembros inferiores, así como por malformaciones en los pies (pies cavos y dedos en martillo), ausencia de reflejos tendinosos profundos, pérdida sensitiva distal asociada a disminución de las velocidades de conducción nerviosa motora y sensitiva, y características tanto de neuropatía desmielinizante como axonal en biopsias de nervio sural."},"it":{"name":"Malattia di Charcot-Marie-Tooth autosomica recessiva intermedia tipo C","synonyms":["RI-CMT, tipo C"],"definition":"La malattia di Charcot-Marie-Tooth autosomica recessiva intermedia tipo C è un sottotipo raro della malattia di Charcot-Marie-Tooth (CMT) autosomica recessiva intermedia, che esordisce tra l'infanzia e l'età adulta con debolezza ed atrofia moderata-grave progressiva, per lo più distale, che interessa soprattutto gli arti inferiori, associata a deformità dei piedi (piede cavo e le dita dei piedi a martello), assenza dei riflessi tendinei profondi e perdita sensoriale distale. I pazienti presentano anche una riduzione della velocità di conduzione dei nervi motori e sensoriali. La biopsia del nervo surale evidenzia i segni caratteristici sia della neuropatia demielinizzante che di quella assonale."},"nl":{"name":"Autosomaal recessieve intermediaire ziekte van Charcot-Marie-Tooth type C","synonyms":["RI-CMT type C"],"definition":"Een zeldzaam subtype van autosomaal recessieve intermediaire ziekte van Charcot-Marie-Tooth (CMT), gekarakteriseerd door aanvang in de kindertijd tot de volwassenheid van progressieve, matige tot ernstige spierzwakte en -atrofie van voornamelijk distale en meestal onderste ledematen, voetmisvormingen (waaronder holvoet en hamertenen), afwezige diepe peesreflexen en distaal zintuiglijk verlies, geassocieerd met verminderde motorische en sensorische zenuwgeleidingssnelheden en kenmerken van zowel demyeliniserende als axonale neuropathie bij biopsie van de nervus suralis."},"pt":{"name":"Doença de Charcot-Marie-Tooth intermédia autossómica recessiva tipo C"},"pl":{"name":"Autosomalna recesywna pośrednia choroba Charcota, Mariego i Toothu typu C","synonyms":["RI-CMT typu C"],"definition":"*Autosomalna recesywna choroba Charcota, Mariego i Tootha typu C jest rzadkim podtypem autosomalnej recesywnej polineuropatii Charcota, Mariego i Tootha (CMT) o początku w dzieciństwie albo wczesnej młodości. Charakteryzuje się postępującym, umiarkowanym lub ciężkim osłabieniem i zanikiem mięśni kończyn dolnych, głównie w odcinku dystalnym, zniekształceniami stóp (m.in. stopa wydrążona i palce młotkowate), zniesieniem głębokich odruchów ścięgnistych i utratą czucia w odcinkach dystalnych kończyn, które są związane ze spowolnieniem przewodzenia impulsów we włóknach ruchowych i czuciowych nerwów oraz cechami demielinizacyjno-aksonalnej neuropatii w biopsji nerwu łydkowego."},"cs":{"name":"Autozomálně recesivní středně těžká Charcotova-Marieova-Toothova nemoc, typ C","synonyms":["RI-CMT typ C","Autozomálně recesivní středně těžká Charcot-Marie-Toothova nemoc, typ C"]},"uk":{"name":"Аутосомно-рецесивна помірно виражена хвороба Шарко-Марі-Тута, тип С","synonyms":["RI-CMT тип C"],"definition":"A rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy."},"zh":{"name":"常染色体隐性中间型夏科-马里-图斯病C型","synonyms":["RI-CMT C型"],"definition":"本病是一种罕见的常染色体隐性遗传性中间夏科-玛丽-图斯(CMT)病亚型，其特征是儿童期至成年期起病，进行性发展，严重程度为中至重度，远端为主且多为下肢的肌无力和肌萎缩，足畸形(包括小腿凹陷和锤状趾)，缺乏深部肌腱反射和远端感觉丧失，伴有运动和感觉神经传导速度减慢。腓肠神经活检显示脱髓鞘和轴索神经病。"},"tr":{"name":"Otozomal resesif orta dereceli Charcot-Marie-Tooth hastalığı tip C","synonyms":["RI-CMT tip C"]}},"xrefs":[{"source":"OMIM","code":"615376","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014154","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4750846","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":"PLEKHG5","name":"pleckstrin homology and RhoGEF domain containing G5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23844677[PMID]_23777631[PMID]","hgnc":"29105","ensembl":"ENSG00000171680","omim":"611101","loci":["1p36.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult","All ages","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"23844677[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}