{"orpha":443073,"name":"Charcot-Marie-Tooth disease type 2S","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMT2S"],"definition":"A rare subtype of axonal hereditary motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy of both the lower and upper limbs, absent or reduced deep tendon reflexes, mild sensory loss, foot drop, and pes cavus leading eventually to wheelchair dependance. Some patients present with early hypotonia and delayed motor development. Scoliosis and variable autonomic disturbances may be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-443073/","orphanet_url":"https://www.orpha.net/en/disease/detail/443073","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth type 2S","synonyms":["CMT2S"],"definition":"Sous-type rare de neuropathies sensitivomotrices héréditaires axonales caractérisé par une faiblesse et une atrophie musculaires distales progressives des membres supérieurs et inférieurs, une diminution ou une absence des réflexes tendineux profonds, une légère perte sensorielle, un pied tombant et des pieds creux pouvant conduire les patients à être dépendants d'un fauteuil roulant. Certains patients présentent une hypotonie à début précoce et un retard de développement moteur. Une scoliose et divers troubles du système nerveux autonome peuvent être associés."},"de":{"name":"Charcot-Marie-Tooth-Krankheit Typ 2S","synonyms":["CMT2S"],"definition":"Eine Subtyp der axonalen hereditären motorischen und sensorischen Neuropathie, der gekennzeichnet ist durch fortschreitende distale Muskelschwäche und Atrophie sowohl der unteren als auch der oberen Gliedmaßen, fehlende oder verminderte tiefe Sehnenreflexe, leichten sensorischen Verlust, Fußsenkung und Pes cavus. Im Verlauf der Krankheit entwickelt sich eine Rollstuhlabhängigkeit. Einige Patienten weisen eine frühe Hypotonie und eine verzögerte motorische Entwicklung auf. Skoliose und variable autonome Störungen wurden ebenfalls berichtet."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth tipo 2S","synonyms":["CMT2S"],"definition":"Es un subtipo de neuropatía sensitivo-motora hereditaria poco frecuente caracterizada por debilidad y atrofia muscular distal progresiva de los miembros superiores e inferiores, reflejos osteotendinosos ausentes o reducidos, leve pérdida sensitiva, pie caído y pie cavo que, conduce eventualmente a dependencia de una silla de ruedas. Algunos pacientes presentan hipotonía precoz y retraso del desarrollo motor. Esta enfermedad también puede asociar escoliosis y alteraciones autonómicas variables."},"it":{"name":"Malattia di Charcot-Marie-Tooth tipo 2S","synonyms":["CMT2S"],"definition":"È un sottotipo raro di neuropatia motoria e sensoriale assonale, caratterizzato da debolezza e atrofia progressiva dei muscoli distali degli arti inferiori e superiori, riduzione o assenza dei riflessi tendinei profondi, lieve perdita sensoriale, piedi cadenti e piede cavo, che costringono i pazienti alla sedia a rotelle. Alcuni pazienti presentano ipotonia precoce e ritardo dello sviluppo motorio. Possono associarsi scoliosi e disturbi del sistema autonomo."},"nl":{"name":"Ziekte van Charcot-Marie-Tooth type 2S","synonyms":["CMT2S"],"definition":"Een zeldzaam subtype van axonale erfelijke motorische en sensorische neuropathie die gekarakteriseerd wordt door progressieve distale spierzwakte en -atrofie in zowel onderste als bovenste ledematen, afwezige of verminderde diepe peesreflexen, mild zintuiglijk verlies, klapvoet, en holvoet, met uiteindelijk afhankelijkheid van een rolstoel tot gevolg. Sommige patiënten vertonen vroege hypotonie en motorische ontwikkelingsachterstand. Scoliose en variabele autonome stoornissen kunnen geassocieerd zijn."},"pt":{"name":"Doença de Charcot-Marie-Tooth tipo 2S"},"pl":{"name":"Choroba Charcota, Mariego i Tootha typu 2S","synonyms":["CMT2S"]},"cs":{"name":"Charcotova-Marieova-Toothova nemoc, typ 2S","synonyms":["CMT2S","Charcot-Marie-Toothova nemoc, typ 2S"]},"uk":{"name":"Хвороба Шарко-Марі-Тута, тип 2S","synonyms":["CMT2S"],"definition":"A rare subtype of axonal hereditary motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy of both the lower and upper limbs, absent or reduced deep tendon reflexes, mild sensory loss, foot drop, and pes cavus leading eventually to wheelchair dependance. Some patients present with early hypotonia and delayed motor development. Scoliosis and variable autonomic disturbances may be associated."},"zh":{"name":"夏科-马里-图斯病2S型","synonyms":["CMT2S"],"definition":"一种罕见的轴突遗传运动和感觉神经病亚型，特征是进行性远端肌肉无力和下肢和上肢萎缩，深层腱反射缺失或减弱，轻度的感觉减退，足下垂和高足弓可最终导致轮椅依赖。一些患者出现早期肌张力低下和运动发育延迟。可合并脊柱侧弯和各种自主神经紊乱。"},"tr":{"name":"Charcot-Marie-Tooth hastalığı tip 2S","synonyms":["CMT2S"]}},"xrefs":[{"source":"OMIM","code":"616155","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014511","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4015349","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":91024,"name":"Autosomal recessive axonal hereditary motor and sensory neuropathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"IGHMBP2","name":"immunoglobulin mu DNA binding protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25439726[PMID]","hgnc":"5542","ensembl":"ENSG00000132740","omim":"600502","loci":["11q13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":35.0,"area":"Worldwide","status":"Validated","source":"28065684[PMID]_28202949[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28065684[PMID]_28202949[PMID]"}],"phenotypes":null}