{"orpha":101084,"name":"Charcot-Marie-Tooth disease type 1D","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMT1D"],"definition":"Charcot-Marie-Tooth disease type 1D (CMT1D) is a form of CMT1, caused by mutations in the <i>EGR2</i> gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-101084/","orphanet_url":"https://www.orpha.net/en/disease/detail/101084","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth type 1D","synonyms":["CMT1D"],"definition":"Forme de maladie de Charcot-Marie-Tooth type&nbsp;1 (CMT1), causée par des mutations du gène <i> EGR2</i> (10q21.1), caractérisée par une gravité et un âge d'apparition variables (entre l'enfance et l'âge adulte), qui se manifeste généralement par une marche anormale, une atrophie et une faiblesse progressives des muscles distaux des membres, et, plus tard, une éventuelle atteinte des muscles proximaux, une déformation du pied et un ralentissement significatif de la vitesse de conduction nerveuse. D'autres symptômes peuvent inclure une scoliose, une atteinte des nerfs crâniens à type de diplopie et de parésie bilatérale des cordes vocales."},"de":{"name":"Charcot-Marie-Tooth-Krankheit Typ 1D","synonyms":["CMT1D"],"definition":"Die Charcot-Marie-Tooth-Erkrankung Typ 1D (CMT1D) ist eine Form der CMT1 (siehe dort), die durch Mutationen im <i>EGR2</i>-Gen (10q21.1) verursacht wird und mit variabler Schwere und variablem Manifestationsalter (vom Kleinkind- bis zum Erwachsenenalter) einhergeht. Sie präsentiert sich in der Regel mit einem auffälligen Gangbild, progressivem Muskelschwund und -schwäche an den distalen Extremitäten, wobei später auch proximale Muskeln betroffen sein und Fußdeformitäten sowie eine Verminderung der Nervenleitgeschwindigkeit auftreten können. Zusätzlich können eine Skoliose, Hirnnervendefizite wie Doppelsehen und eine bilaterale Stimmlippenparese vorhanden sein."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth tipo 1D","definition":"Es una forma de CMT1 causada por mutaciones en el gen EGR2 (10q21.1), de gravedad y edad de inicio variables (desde la lactancia hasta la adolescencia). Por lo general, se presenta con alteraciones de la marcha, atrofia y debilidad progresiva de los músculos distales de las extremidades, con posible afectación tardía de los músculos proximales, malformación del pie y una reducción grave de la velocidad de conducción nerviosa. Otros hallazgos adicionales pueden incluir la escoliosis, déficits de los pares craneales que cursan con diplopía o paresia bilateral de las cuerdas vocales."},"it":{"name":"Malattia di Charcot-Marie-Tooth, tipo 1D","synonyms":["CMT1D"],"definition":"La malattia di Charcot-Marie-Tooth tipo 1D (CMT1D) è una forma di CMT1 (si veda questo termine). E' causata dalle mutazioni nel gene EGR2 (10q21.1) ed è caratterizzata da gravità ed età di esordio variabili (dall'infanzia sino all'età adulta). Di solito esordisce con anomalie della deambulazione, atrofia e debolezza progressive dei muscoli distali degli arti, con eventuale interessamento successivo dei muscoli prossimali, deformità dei piedi e grave riduzione della velocità di conduzione nervosa. Altri segni clinici sono la scoliosi, il deficit dei nervi cranici, compresa la diplopia e la paresi bilaterale delle corde vocali."},"nl":{"name":"Ziekte van Charcot-Marie-Tooth type 1D","synonyms":["CMT1D"],"definition":"Ziekte van Charcot-Marie-Tooth type 1D (CMT1D) is een vorm van CMT1 (zie deze term) die veroorzaakt wordt door mutaties in het gen <i> EGR2</i> (10q21.1), die een variabele ernst en aanvangsleeftijd (van de zuigelingentijd tot de volwassenheid) vertoont, en die zich doorgaans manifesteert met gangstoornissen, progressieve distale spierzwakte en -atrofie met later mogelijke betrokkenheid van proximale spieren, voetmisvorming, en ernstige reductie van de zenuwgeleidingssnelheid. Mogelijke bijkomende kenmerken zijn onder meer scoliose, stoornissen van de hersenzenuwen zoals diplopie, en bilaterale stembandverlamming."},"pt":{"name":"Doença de Charcot-Marie-Tooth tipo 1D"},"pl":{"name":"Choroba Charcota, Mariego i Tootha typu 1D","synonyms":["CMT1D"],"definition":"Choroba Charcota, Mariego i Tootha typu 1D (CMT1D) to postać CMT1 (sprawdź ten termin) spowodowana mutacjami genu EGR2 (10q21.1) ze zmiennym nasileniem objawów i wiekiem zachorowania (od wieku niemowlęcego po dorosłość), która najczęściej objawia się nieprawidłowościami chodu, postępującym zmęczeniem i osłabieniem dystalnych mięśni kończyn, z możliwym późniejszym udziałem mięśni proksymalnych, zniekształceniem stóp i znacznym zwolnieniem prędkości przewodzenia nerwowego. Do objawów dodatkowych może należeć skolioza, zaburzenia nerwów czaszkowych, takie jak podwójne widzenie oraz obustronne porażenie strun głosowych."},"cs":{"name":"Charcotova-Marieova-Toothova nemoc, typ 1D","synonyms":["CMT1D","Charcot-Marie-Toothova nemoc, typ 1D"]},"uk":{"name":"Хвороба Шарко-Марі-Тута, тип 1D","synonyms":["CMT1D"],"definition":"Charcot-Marie-Tooth disease type 1D (CMT1D) is a form of CMT1 (see this term), caused by mutations in the <i>EGR2</i> gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis."},"zh":{"name":"夏科-马里-图斯病1D型","synonyms":["CMT1D"],"definition":"Charcot-Marie-Tooth disease 1D型(CMT1D)是CMT1的一种，由EGR2基因(10q21.1)突变引起，具有不同的严重程度和发病年龄(从婴儿期到成年期)，通常表现为步态异常、进行性消瘦和四肢远端肌肉无力，随后可能累及近端肌肉、足部畸形和神经传导速度严重减慢。其他特征可能包括脊柱侧弯、颅神经缺陷(如复视)和双侧声带麻痹。"},"tr":{"name":"Charcot-Marie-Tooth hastalığı tip 1D","synonyms":["CMT1D"]}},"xrefs":[{"source":"OMIM","code":"607678","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C20.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2062905967"},{"source":"MONDO","code":"0011890","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537985","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1843247","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":65753,"name":"Charcot-Marie-Tooth disease type 1","classifications":[156,181]}],"children":[],"genes":[{"symbol":"EGR2","name":"early growth response 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301384[PMID]","hgnc":"3239","ensembl":"ENSG00000122877","omim":"129010","loci":["10q21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[],"phenotypes":null}