{"orpha":99956,"name":"Charcot-Marie-Tooth disease type 4B2","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMT4B2"],"definition":"A form of Charcot-Marie-Tooth disease type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, absence of deep tendon reflexes, and frequent pes cavus). Severe visual impairment leading to visual loss, usually associated with glaucoma, and vocal cord paresis, has also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99956/","orphanet_url":"https://www.orpha.net/en/disease/detail/99956","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth type 4B2","synonyms":["CMT4B2"],"definition":"Forme de la maladie de Charcot-Marie-Tooth type 4 caractérisée par une neuropathie sensitivo-motrice démyélinisante sévère survenant en début de l'enfance, un glaucome précoce, un repli focal des gaines de myéline au niveau des nerfs périphériques, un ralentissement sévère des vitesses de conduction nerveuse, et le phénotype typique de la CMT (faiblesse et atrophie musculaires distales, perte sensorielle, absence de réflexes tendineux profonds et pieds creux fréquemment observés). Des cas de déficience visuelle sévère entraînant une cécité, généralement associée à un glaucome, ainsi qu'une parésie des cordes vocales, ont également été rapportés."},"de":{"name":"Charcot-Marie-Tooth-Krankheit Typ 4B2","synonyms":["CMT4B2"],"definition":"Ein Subtyp der Charcot-Marie-Tooth-Krankheit Typ 4, der durch eine schwere, frühkindliche, demyelinisierende sensomotorische Neuropathie, ein früh einsetzendes Glaukom, fokal gefaltete Myelinscheiden in den peripheren Nerven, stark reduzierte Nervenleitgeschwindigkeiten und den typischen CMT-Phänotyp (d. h. distale Muskelschwäche und -atrophie, sensorischer Verlust und häufiger Pes cavus) gekennzeichnet ist. Schwere Sehstörungen bis hin zum Verlust des Sehvermögens wurden ebenfalls berichtet."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth tipo 4B2","definition":"La enfermedad de Charcot-Marie-Tooth tipo 4B2 (CMT4B2) es un subtipo de la enfermedad de Charcot-Marie-Tooth tipo 4 caracterizado por una neuropatía sensitivo-motora desmielinizante grave de inicio en la infancia temprana, glaucoma de inicio temprano, plegamiento focal de las vainas de mielina de los nervios periféricos, velocidad de conducción nerviosa gravemente reducida, y fenotipo típico de CMT (es decir, debilidad y atrofia muscular distal, pérdida sensorial y frecuente pie cavo). Asimismo, se ha descrito grave deterioro visual conducente a pérdida visual."},"it":{"name":"Malattia di Charcot-Marie-Tooth, tipo 4B2","synonyms":["CMT4B2"],"definition":"La malattia di Charcot-Marie-Tooth tipo 4B2 (CMT4B2) è un sottotipo della malattia di Charcot-Marie-Tooth tipo 4. E' caratterizzata da neuropatia sensitivo-motoria demielinizzante grave, ad esordio nella prima infanzia, glaucoma ad esordio precoce, presenza di pieghe irregolari sulle guaine mieliniche dei nervi periferici e velocità di conduzione nervosa notevolmente ridotta, in presenza di un quadro clinico tipico della CMT (debolezza e atrofia dei muscoli distali, perdita sensoriale e, spesso, piede cavo). Può essere compromessa gravemente la vista, fino alla cecità."},"nl":{"name":"Ziekte van Charcot-Marie-Tooth type 4B2","synonyms":["CMT4B2"],"definition":"Ziekte van Charcot-Marie-Tooth 4B2 (CMT4B2) is een subtype van Charcot-Marie-Tooth type 4 dat wordt gekarakteriseerd door een ernstige demyeliniserende sensorimotorische neuropathie met aanvang in de vroege kindertijd, glaucoom met vroege aanvang, focaal gevouwen myelineschedes in de perifere zenuwen, sterk verminderde zenuwgeleidingssnelheden, en het typische CMT-fenotype (i.e. distale spierzwakheid en -atrofie, zintuigelijk verlies, en geregeld pes cavus (holvoet)). Ernstige visuele handicap met blindheid tot gevolg werd ook reeds gerapporteerd."},"pt":{"name":"Doença de Charcot-Marie-Tooth tipo 4B2","definition":"A doença de Charcot-Marie-Tooth, tipo 4B2 (CMT4B2) é uma polineuropatia periférica sensitivomotora desmielinizante."},"pl":{"name":"Choroba Charcota, Mariego i Tootha typu 4B2","synonyms":["CMT4B2"]},"cs":{"name":"Charcotova-Marieova-Toothova nemoc, typ 4B2","synonyms":["CMT4B2","Charcot-Marie-Toothova nemoc, typ 4B2"]},"uk":{"name":"Хвороба Шарко-Марі-Тута, тип 4B2","synonyms":["CMT4B2"],"definition":"Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported."},"zh":{"name":"腓骨肌萎缩症4B2型","synonyms":["CMT4B2"],"definition":"Charcot-Marie-Tooth病4B2型(CMT4B2)是Charcot-Marie-Tooth 4型的一个亚型，其特征是严重的儿童期起病的脱髓鞘感觉运动性神经病，早发性青光眼，周围神经髓鞘部分折叠，神经传导速度严重减慢，以及典型的CMT表型(即远端肌肉无力和萎缩，感觉丧失，经常出现腔静脉)。据报道，严重的视力损害也会导致视力丧失。"},"tr":{"name":"Charcot-Marie-Tooth hastalığı tip 4B2","synonyms":["CMT4B2"]}},"xrefs":[{"source":"OMIM","code":"604563","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":"393759720"},{"source":"MONDO","code":"0011475","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535421","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1858278","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9200","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":"SBF2","name":"SET binding factor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301641[PMID]","hgnc":"2135","ensembl":"ENSG00000133812","omim":"607697","loci":["11p15.4"]}],"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":"2021-10-28","source":"31070812[PMID]","terms":[{"hpo":"HP:0001760","label":"Abnormal foot morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002522","label":"Areflexia of lower limbs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007230","label":"Decreased distal sensory nerve action potential","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009053","label":"Distal lower limb muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008959","label":"Distal upper limb muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004336","label":"Myelin outfoldings","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007010","label":"Poor fine motor coordination","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012046","label":"Areflexia of upper limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002936","label":"Distal sensory impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001618","label":"Dysphonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008994","label":"Proximal muscle weakness in lower limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001605","label":"Vocal cord paralysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000557","label":"Buphthalmos","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001087","label":"Developmental glaucoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030237","label":"Hand muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001026","label":"Penetrating foot ulcers","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008997","label":"Proximal muscle weakness in upper limbs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002792","label":"Reduced vital capacity","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:0001328","label":"Specific learning disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030051","label":"Tip-toe gait","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:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030319","label":"Weakness of facial musculature","frequency":"Occasional (29-5%)","criteria":null}]}}