{"orpha":101082,"name":"Charcot-Marie-Tooth disease type 1B","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMT1B"],"definition":"Charcot-Marie-Tooth disease type 1B (CMT1B) is a form of CMT1, caused by mutations in the <i>MPZ</i> gene (1q22), that presents with the manifestations of peripheral neuropathy (distal muscle weakness and atrophy, foot deformities and sensory loss). The phenotype is variable depending on the particular mutation. Two distinct presentations have been described: (1) an early infantile onset severe phenotype with delayed walking and motor nerve conduction velocities (MNCV) <10 m/s, often referred to as Dejerine-Sottas syndrome, or (2) a much later onset phenotype (>age 40), with normal or mildly slowed MNCV and more frequent hearing loss and pupillary abnormalities. CMT1B can also cause the classical CMT phenotype in about 15% of total CMT1B cases.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-101082/","orphanet_url":"https://www.orpha.net/en/disease/detail/101082","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth type 1B","synonyms":["CMT1B"],"definition":"Forme de maladie de Charcot-Marie-Tooth type&nbsp;1 (CMT1), causée par des mutations du gène <i>MPZ</i> (1q22), qui se manifeste par une neuropathie périphérique (faiblesse et atrophie des muscles distaux, déformations des pieds et altération sensorielle). Le phénotype varie en fonction de la mutation en cause. Deux formes distinctes ont été décrites&nbsp;: (1) un phénotype sévère se manifestant dans la petite enfance par un retard dans l'apprentissage de la marche et des vitesses de conduction nerveuse motrice (VCNM) <10&nbsp;m/s, souvent appelé syndrome de Dejerine-Sottas, ou (2) un phénotype à début beaucoup plus tardif (>40&nbsp;ans), avec des VCNM normales ou légèrement ralenties et, souvent, une perte d'audition et des anomalies pupillaires. Le phénotype CMT classique est présent dans environ 15&nbsp;% des cas de CMT1B."},"de":{"name":"Charcot-Marie-Tooth-Krankheit Typ 1B","synonyms":["CMT1B"],"definition":"Die Charcot-Marie-Tooth-Erkrankung Typ 1B (CMT1B) ist eine Form der CMT1 (siehe dort), die durch Mutationen im <i>MPZ</i>-Gen (1q22) verursacht wird und sich mit einer peripheren Neuropathie (distale Muskelschwäche und -atrophie, Fußdeformitäten und Sensibilitätsverlust) manifestiert. Der Phänotyp ist sehr variabel und abhängig von der entsprechenden Mutation. Zwei verschiedene klinische Präsentationen wurden beschrieben: (1) ein frühkindlich beginnender, stark ausgeprägter Phänotyp mit verspätetem Erlernen des Laufens und einer motorischen Nervenleitgeschwindigkeit (MNLG) von < 10 m/s, oft beschrieben als das Dejerine-Sottas-Syndrom (siehe dort), oder (2) ein deutlich später manifestierender Phänotyp (Alter > 40 Jahre) mit normaler oder gering verlangsamter MNLG, häufigerem Hörverlust und Pupillenauffälligkeiten. CMT1B kann auch den klassischen CMT-Phänotypen in ca. 15 % aller CMT1B-Fällen hervorrufen."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth tipo 1B","definition":"Es una forma de CMT1 causada por mutaciones en el gen <i>MPZ</i> (1q22), que se presenta con manifestaciones de neuropatía periférica (debilidad muscular y atrofia distal, malformaciones del pie y pérdida sensitiva). El fenotipo es variable dependiendo de la mutación asociada. Se presenta de dos formas distintas: (1) un fenotipo grave de inicio temprano (en el periodo de lactancia) con retraso de la marcha y velocidad de conducción nerviosa motora (VCNM) <10 m/s, conocido habitualmente como síndrome de Dejerine-Sottas, o (2) un fenotipo de inicio mucho más tardío (>40 años de edad), con una VCNM normal o ligeramente reducida, una pérdida más frecuente de audición, y alteraciones pupilares. Aproximadamente, el 15% de los casos puede cursar con el fenotipo clásico de la enfermedad de CMT."},"it":{"name":"Malattia di Charcot-Marie-Tooth, tipo 1B","synonyms":["CMT1B"],"definition":"La malattia di Charcot-Marie-Tooth tipo 1B (CMT1B) è una forma di CMT1 (si veda questo termine). E' causata dalle mutazioni nel gene MPZ (1q22) ed esordisce con i segni della neuropatia periferica (debolezza e atrofia muscolare distale, deformità del piede e perdita sensoriale). Il fenotipo varia a seconda della mutazione. Sono state descritte due forme: (1) un fenotipo grave ad esordio nella prima infanzia, con ritardo nella deambulazione e velocità di conduzione dei nervi motori (VCNM) <10 m/s, spesso definita sindrome di Dejerine-Sottas (si veda questo termine); (2) un fenotipo ad esordio molto più tardivo (età >40), con VCNM normale o lievemente rallentata e, spesso, ipoacusia e anomalie delle pupille. Nel 15% circa dei casi di CMT1B è presente il fenotipo classico della CMT."},"nl":{"name":"Ziekte van Charcot-Marie-Tooth type 1B","synonyms":["CMT1B"],"definition":"Ziekte van Charcot-Marie-Tooth type 1B (CMT1B) is een vorm van CMT1 (zie deze term) die veroorzaakt wordt door mutaties in het gen <i>MPZ</i> (1q22), en die zich voordoet met manifestaties van perifere neuropathie (distale spierzwakte en -atrofie, voetmisvormingen en zintuiglijk verlies). Het fenotype varieert afhankelijk van de specifieke mutatie. Twee verschillende ziektebeelden werden beschreven: (1) een ernstig fenotype met vroege infantiele aanvang, loopachterstand, en motorische zenuwgeleidingssnelheden (MNCV) <10m/s, vaak syndroom van Dejerine-Sottas (zie deze term) genoemd, of (2) een fenotype met een veel latere aanvang (>leeftijd van 40 jaar), normale of mild vertraagde MNCV, en frequenter gehoorverlies en pupilafwijkingen. Bij ongeveer 15% van alle gevallen van CMT1B kan deze ziekte ook het klassieke CMT-fenotype veroorzaken."},"pt":{"name":"Doença de Charcot-Marie-Tooth tipo 1B"},"pl":{"name":"Choroba Charcota, Mariego i Tootha typu 1B","synonyms":["CMT1B"],"definition":"Choroba Charcota, Mariego i Tootha typu 1B (CMT1B) to postać CMT1 (sprawdź ten termin) spowodowana mutacjami genu MPZ (1q22), która objawia się neuropatią obwodową (osłabienie i atrofia mięśni dystalnych, zniekształcenie stóp oraz utrata czucia). Fenotyp jest zmienny i zależy od konkretnej mutacji. Opisano dwa różne obrazy kliniczne: (1) początek choroby we wczesnym niemowlęctwie z ciężkim fenotypem z opóźnieniem nauki chodzenia i prędkością przewodzenia nerwów ruchowych (motor nerve conduction velocities - MNCV) inf 10 m/s, często uznawany za zespół Dejerine’a i Sottasa (sprawdź ten termin) lub (2) o dużo późniejszym wieku zachorowania (sup 40 lat), z prawidłowym lub łagodnie spowolnionym MNCV oraz często występującą utratą słuchu i nieprawidłowościami źrenic. W 15% przypadków CMT1B występuje klasyczny fenotyp CMT."},"cs":{"name":"Charcotova-Marieova-Toothova nemoc, typ 1B","synonyms":["CMT1B","Charcot-Marie-Toothova nemoc, typ 1B"]},"uk":{"name":"Хвороба Шарко-Марі-Тута, тип 1B","synonyms":["CMT1B"],"definition":"Charcot-Marie-Tooth disease type 1B (CMT1B) is a form of CMT1 (see this term), caused by mutations in the <i>MPZ</i> gene (1q22), that presents with the manifestations of peripheral neuropathy (distal muscle weakness and atrophy, foot deformities and sensory loss). The phenotype is variable depending on the particular mutation. Two distinct presentations have been described: (1) an early infantile onset severe phenotype with delayed walking and motor nerve conduction velocities (MNCV) <10 m/s, often referred to as Dejerine-Sottas syndrome (see this term), or (2) a much later onset phenotype (>age 40), with normal or mildly slowed MNCV and more frequent hearing loss and pupillary abnormalities. CMT1B can also cause the classical CMT phenotype in about 15% of total CMT1B cases."},"zh":{"name":"夏科-马里-图斯病1B型","synonyms":["CMT1B"],"definition":"Charcot-Marie-Tooth病1B(CMT1B)是CMT1的一种，由MPZ基因(1q22)突变引起，表现为周围神经病变(远端肌肉无力和萎缩，足部畸形和感觉丧失)。表型因具体突变而异。有两种不同的表现被描述：(1)婴儿起病早期的严重表型，伴步行延迟和运动神经传导速度(MNCV) sup 10m/s，通常被称为Dejerine-Sottas综合征(见该词条)；(2)发病较晚的表型( inf 40岁)，MNCV正常或轻度减慢，更频繁地听力损失和瞳孔异常。CMT1B还可引起约15%的CMT1B病例的典型CMT表型。"},"tr":{"name":"Charcot-Marie-Tooth hastalığı tip 1B","synonyms":["CMT1B"]}},"xrefs":[{"source":"OMIM","code":"118200","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":"1632280319"},{"source":"MONDO","code":"0007307","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0270912","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":"MPZ","name":"myelin protein zero","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301384[PMID]","hgnc":"7225","ensembl":"ENSG00000158887","omim":"159440","loci":["1q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20301384[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-07-20","source":"12477701[PMID]_14711881[PMID]_18337304[PMID]","terms":[{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000615","label":"Abnormal pupil morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000762","label":"Decreased nerve conduction velocity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002922","label":"Increased CSF protein concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003477","label":"Peripheral axonal neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003469","label":"Peripheral dysmyelination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003712","label":"Skeletal muscle hypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003474","label":"Somatic sensory dysfunction","frequency":"Occasional (29-5%)","criteria":null}]}}