{"orpha":99949,"name":"Charcot-Marie-Tooth disease type 4C","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMT4C"],"definition":"A form of Charcot-Marie-Tooth disease type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, absence of deep tendon reflexes, and often foot deformity). A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99949/","orphanet_url":"https://www.orpha.net/en/disease/detail/99949","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth type 4C","synonyms":["CMT4C"],"definition":"Forme de la maladie de Charcot-Marie-Tooth type 4 caractérisée par la survenue pendant l'enfance ou l'adolescence d'une neuropathie sensitivo-motrice démyélinisante relativement légère, qui contraste avec une scoliose précoce sévère, rapidement progressive, et par le phénotype typique de la CMT (faiblesse et atrophie musculaires distales, perte sensorielle et déformation fréquente des pieds). Un large spectre de vitesses de conduction nerveuse est observé. Une atteinte des nerfs crâniaux et une cyphoscoliose ont, par ailleurs, été rapportées."},"de":{"name":"Charcot-Marie-Tooth-Krankheit Typ 4C","synonyms":["CMT4C"],"definition":"Ein Subtyp der Charcot-Marie-Tooth-Krankheit Typ 4, bei dem im Kindes- oder Jugendalter eine relativ milde, demyelinisierende sensomotorische Neuropathie auftritt, die sich von einer schweren, schnell fortschreitenden, früh einsetzenden Skoliose und dem typischen CMT-Phänotyp (d. h. distale Muskelschwäche und -atrophie, sensorischer Verlust und häufig Fußdeformität) unterscheidet. Ein breites Spektrum an Nervenleitgeschwindigkeiten ist möglich, Hirnnervenbeteiligung und Kyphoskoliose können ebenfalls assoziiert sein."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth tipo 4C","definition":"La enfermedad de Charcot-Marie-Tooth tipo 4C (CMT4C) es un subtipo de la enfermedad de Charcot-Marie-Tooth tipo 4 caracterizado por el inicio en la infancia o adolescencia de una neuropatía sensitivo-motora desmielinizante relativamente leve que contrasta con una escoliosis grave, rápidamente progresiva de inicio temprano, y el fenotipo típico de CMT (es decir, debilidad y atrofia muscular distal, pérdida sensorial y, a menudo, deformidad de los pies). El espectro de velocidades de conducción nerviosa observado es muy amplio y también se ha descrito afectación de nervios craneales y cifoscoliosis."},"it":{"name":"Malattia di Charcot-Marie-Tooth, tipo 4C","synonyms":["CMT4C"],"definition":"La malattia di Charcot-Marie-Tooth, tipo 4C (CMT4C) è un sottotipo della malattia di Charcot-Marie-Tooth tipo 4. È caratterizzata da neuropatia sensitivo-motoria demielinizzante relativamente lieve ad esordio nell'infanzia o dell'adolescenza, associata a scoliosi grave ad esordio precoce e progressione rapida e al quadro clinico caratteristico della CMT (debolezza e atrofia dei muscoli distali, perdita sensoriale e, spesso, deformità dei piedi). La velocità di conduzione nervosa è ampiamente variabile; possono essere colpiti i nervi cranici e può essere presente cifoscoliosi."},"nl":{"name":"Ziekte van Charcot-Marie-Tooth type 4C","synonyms":["CMT4C"],"definition":"Ziekte van Charcot-Marie-Tooth 4C (CMT4C) is een subtype van Charcot-Marie-Tooth type 4 dat wordt gekarakteriseerd door een relatief milde, demyeliniserende sensorimotorische neuropathie met aanvang in de kindertijd of adolescentie, naast een ernstige, snel progressieve en vroeg aanvangende scoliose met vroege aanvang, en het typische CMT-fenotype (i.e. distale spierzwakheid en -atrofie, zintuigelijk verlies, en vaak misvorming van de voet). Er wordt een breed spectrum aan zenuwgeleidingssnelheden waargenomen, en betrokkenheid van hersenzenuwen en kyfoscoliose werden ook reeds gerapporteerd."},"pt":{"name":"Doença de Charcot-Marie-Tooth tipo 4C","definition":"A doença Charcot-Marie-Tooth, tipo 4C (CMT4C) é uma polineuropatia periférica sensitivomotora desmielinizante com apresentação precoce de escoliose ou cifoscoliose."},"pl":{"name":"Choroba Charcota, Mariego i Tootha typu 4C","synonyms":["CMT4C"]},"cs":{"name":"Charcotova-Marieova-Toothova nemoc, typ 4C","synonyms":["CMT4C","Charcot-Marie-Toothova nemoc, typ 4C"]},"uk":{"name":"Хвороба Шарко-Марі-Тута, тип 4С","synonyms":["CMT4C"],"definition":"Charcot-Marie-Tooth disease type 4C (CMT4C) is a subtype of Charcot-Marie-Tooth type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and often foot deformity). A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have also been reported."},"zh":{"name":"腓骨肌萎缩症4C型","synonyms":["CMT4C"],"definition":"Charcot-Marie-Tooth病4C型(CMT4C)是Charcot-Marie-Tooth 4型的一个亚型，以儿童期或青春期起病为特征，表现为相对较轻的脱髓鞘感觉运动性神经病，与严重的、进展迅速的、发病早的脊柱侧凸和典型的CMT表型(即远端肌肉无力和萎缩、感觉丧失，通常是足部畸形)形成对比。可以观察到神经传导速度跨度广，也有脑神经受累和脊柱后凸的报道。"},"tr":{"name":"Charcot-Marie-Tooth hastalığı tip 4C","synonyms":["CMT4C"]}},"xrefs":[{"source":"OMIM","code":"601596","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":"382219984"},{"source":"MONDO","code":"0011113","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535423","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1866636","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":64749,"name":"Charcot-Marie-Tooth disease type 4","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SH3TC2","name":"SH3 domain and tetratricopeptide repeats 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301514[PMID]","hgnc":"29427","ensembl":"ENSG00000169247","omim":"608206","loci":["5q32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-05-15","source":"28981955[PMID]_20301514[PMID]_27231023[PMID]","terms":[{"hpo":"HP:0001760","label":"Abnormal foot morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003431","label":"Decreased motor nerve conduction velocity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003380","label":"Decreased number of peripheral myelinated nerve fibers","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007108","label":"Demyelinating peripheral neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003444","label":"EMG: chronic denervation signs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004302","label":"Functional motor deficit","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007141","label":"Sensorimotor neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003693","label":"Distal amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002460","label":"Distal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009027","label":"Foot dorsiflexor weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002359","label":"Frequent falls","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001765","label":"Hammertoe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006886","label":"Impaired distal vibration sensation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008443","label":"Spinal deformities","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001308","label":"Tongue fasciculations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000587","label":"Abnormal optic nerve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007695","label":"Abnormal pupillary light reflex","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009916","label":"Anisocoria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000651","label":"Diplopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002307","label":"Drooling","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007209","label":"Facial paralysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002346","label":"Head tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002791","label":"Hypoventilation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007328","label":"Impaired pain sensation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002403","label":"Positive Romberg sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010871","label":"Sensory ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012473","label":"Tongue atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000183","label":"Tongue muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001604","label":"Vocal cord paresis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030319","label":"Weakness of facial musculature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007994","label":"Peripheral visual field loss","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008081","label":"Pes valgus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100661","label":"Trigeminal neuralgia","frequency":"Very rare (<4-1%)","criteria":null}]}}