{"orpha":324585,"name":"Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal dominant intermediate CMT disease with neuropathic pain"],"definition":"A rare subtype of autosomal dominant intermediate Charcot-Marie-Tooth disease characterized by debilitating neuropathic pain associated with mild, distal, symmetrical lower limb sensory loss and mild or absent motor dysfunction. Patients typically manifest with burning, aching, shooting, or throbbing pain and intermittent paraesthesia in toes, heels and ankles.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-324585/","orphanet_url":"https://www.orpha.net/en/disease/detail/324585","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth intermédiaire autosomique dominante avec douleurs neuropathiques","definition":"Sous-type rare de la maladie de Charcot-Marie-Tooth intermédiaire autosomique dominante caractérisé par des douleurs neuropathiques handicapantes associées à une perte sensorielle légère, distale et symétrique affectant les membres inférieurs, sans ou avec un léger dysfonctionnement moteur. Les patients présentent habituellement des douleurs à type de brûlures ou de courbatures, ou encore des douleurs vives ou lancinantes, ainsi qu'une paresthésie au niveau des orteils, des talons et des chevilles."},"de":{"name":"Charcot-Marie-Tooth-Krankheit, dominant-intermediäre, mit neuropathischem Schmerz"},"es":{"name":"Enfermedad de Charcot-Marie-Tooth intermedia autosómica dominante con dolor neuropático","definition":"Es un subtipo poco frecuente de la enfermedad de Charcot-Marie-Tooth intermedia autosómica dominante, caracterizada por dolor neuropático debilitante asociado a leve pérdida sensorial simétrica en la porción distal de los miembros inferiores y disfunción motora leve o ausente. Por lo general, los afectados manifiestan dolor ardiente, pulsátil o punzante y parestesia intermitente en los dedos de los pies, talones y tobillos."},"it":{"name":"Malattia di Charcot-Marie-Tooth autosomica dominante intermedia con dolore neuropatico","definition":"La malattia di Charcot-Marie-Tooth autosomica dominante intermedia con dolore neuropatico è un sottotipo raro della malattia di Charcot-Marie-Tooth autosomica dominante intermedia. È caratterizzata da dolore neuropatico debilitante associato a perdita sensoriale lieve e simmetrica nella porzione distale degli arti inferiori, o, occasionalmente, a lieve disfunzione motoria. Di solito i pazienti riportano una sensazione di bruciore e dolore lancinante o pulsante, associati a parestesie intermittenti delle dita dei piedi, dei talloni e delle caviglie."},"nl":{"name":"Autosomaal dominante intermediaire ziekte van Charcot-Marie-Tooth met neuropathische pijn","definition":"Een zeldzaam subtype van autosomaal dominante intermediaire ziekte van Charcot-Marie-Tooth, gekarakteriseerd door invaliderende neuropathische pijn, geassocieerd met mild, symmetrisch zintuiglijk verlies in distale onderste ledematen en milde of afwezige motorische disfunctie. Doorgaans lijden patiënten aan een brandende, zeurende, stekende, of kloppende pijn en intermitterende paresthesie in tenen, hielen en enkels."},"pt":{"name":"Doença de Charcot-Marie-Tooth intermédia autossómica dominante com dor neuropática"},"pl":{"name":"Autosomalna dominująca choroba Charcota, Mariego i Tootha z bólem neuropatycznym","synonyms":["Autosomal dominant intermediate CMT disease with neuropathic pain"],"definition":"*Autosomalna dominująca choroba Charcota, Mariego i Tootha z bólem neuropatycznym jest rzadkim podtypem polineuropatii Charcota, Mariego i Tootha o dziedziczeniu autosomalnym dominującym. Charakteryzuje się bardzo silnym bólem neuropatycznym, któremu towarzyszy łagodna, dystalna, symetryczna utrata czucia w kończynach dolnych oraz łagodna dysfunkcja ruchowa, która jest objawem niestałym. Pacjenci zwykle zgłaszają palący, rwący, strzelający lub pulsujący ból oraz okresowe parestezje w palcach stóp, piętach i kostkach."},"cs":{"name":"Autozomálně dominantní středně pokročilá Charcotova-Marieova-Toothova nemoc s neuropatickou bolestí","synonyms":["Autozomálně dominantní středně pokročilá Charcot-Marie-Toothova nemoc s neuropatickou bolestí"]},"uk":{"name":"Аутосомно-домінантна помірно виражена хвороба Шарко-Марі-Тута з невропатичним болем","synonyms":["Аутосомно-домінантна проміжна хвороба CMT з невропатичним болем"],"definition":"A rare subtype of autosomal dominant intermediate Charcot-Marie-Tooth disease characterized by debilitating neuropathic pain associated with mild, distal, symmetrical lower limb sensory loss and mild or absent motor dysfunction. Patients typically manifest with burning, aching, shooting, or throbbing pain and intermittent paraesthesia in toes, heels and ankles."},"zh":{"name":"常染色体显性遗传中间型夏科-马里-图斯症伴神经性疼痛","synonyms":["Autosomal dominant intermediate CMT disease with neuropathic pain"],"definition":"一种罕见的常染色体显性中间型夏科-马里-图斯病亚型，其特征为衰弱性神经性疼痛，伴轻度远端对称下肢感觉丧失，轻度或无运动功能障碍。患者通常表现为烧灼感、疼痛、刺痛或搏动性疼痛，以及脚趾、脚跟和脚踝的间歇性感觉异常。"},"tr":{"name":"Nöropatik ağrı ile seyreden otozomal dominant orta seviyeli Charcot-Marie-Tooth hastalığı","synonyms":["Autosomal dominant intermediate CMT disease with neuropathic pain"]}},"xrefs":[{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C20.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017937","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4755257","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":90114,"name":"Autosomal dominant intermediate Charcot-Marie-Tooth disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"MPZ","name":"myelin protein zero","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22704856[PMID]","hgnc":"7225","ensembl":"ENSG00000158887","omim":"159440","loci":["1q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"22704856[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}