{"orpha":99954,"name":"Charcot-Marie-Tooth disease type 4H","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMT4H"],"definition":"A form of Charcot-Marie-Tooth disease type&nbsp;4 characterized by onset before two years of age of severe, slowly progressive, demyelinating sensorimotor neuropathy manifesting with delayed motor development (walking), unsteady gait, distal muscle weakness and atrophy (more prominent in the lower limbs), areflexia, mild symmetrical stocking-distribution hypoesthesia, and skeletal malformations (incl. kyphoscoliosis, short neck, pes cavus and pes equinus). Some patients have thenar and hypothenar hypoplasia. Severely reduced nerve conduction velocities are associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99954/","orphanet_url":"https://www.orpha.net/en/disease/detail/99954","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth type 4H","synonyms":["CMT4H"],"definition":"Forme de la maladie de Charcot-Marie-Tooth de type&nbsp;4 caractérisée par la survenue avant l'âge de deux ans d'une neuropathie sensitivo-motrice démyélinisante sévère, lentement progressive, se manifestant par un retard de développement moteur (la marche), une démarche instable, une faiblesse et une atrophie musculaires distales (affectant surtout les membres inférieurs), une aréflexie, une légère hypoesthésie symétrique avec une distribution en «&nbsp;chaussettes&nbsp;», et des malformations squelettiques (incluant une cyphoscoliose, un cou court, des pieds creux et des pieds bots équins). Les vitesses de conduction nerveuse sont sévèrement ralenties."},"de":{"name":"Charcot-Marie-Tooth-Krankheit Typ 4H","synonyms":["CMT4H"],"definition":"Der Typ 4H der Charcot-Marie-Tooth-Krankheit (CMT4H) ist eine demyelinisierende, periphere, sensomotorische CMT-Polyneuropathie. Die Krankheit ist durch den Beginn einer schweren, langsam fortschreitenden, demyelinisierenden sensomotorischen Neuropathie vor dem zweiten Lebensjahr gekennzeichnet. Andere häufige Symptome sind verzögerte motorische Entwicklung (Gehen), unsicheren Gang, distale Muskelschwäche und -atrophie (stärker ausgeprägt in den unteren Gliedmaßen), Areflexie, milde symmetrische Hypoästhesie mit strumpfförmiger Ausbreitung und Skelettfehlbildungen (incl. Kyphoskoliose, Kurzhalsigkeit, Pes cavus und Pes equinus). Die Nervenleitgeschwindigkeiten sind stark verringert und die Nervenbiopsie zeigt Verlust myelinisierter Fasern, Zwiebelschalenmuster, umschriebene Anschwellungen des Myelins und Proliferation."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth tipo 4H","definition":"La enfermedad de Charcot-Marie-Tooth tipo 4H es un subtipo de la enfermedad de Charcot-Marie-Tooth tipo 4 que se caracteriza por la aparición, antes de los dos años de edad, de neuropatía sensitivo-motora desmielinizante grave, lentamente progresiva, que se manifiesta con retraso del desarrollo motor (adquisición de la marcha), marcha inestable, debilidad y atrofia muscular distal (más prominente en las extremidades inferiores), arreflexia, leve hipoestesia simétrica de distribución en calcetín y malformaciones esqueléticas (incluyendo cifoescoliosis, cuello corto, pie cavo y pie equino). Se asocia con velocidades de conducción nerviosa muy/extremadamente disminuidas."},"it":{"name":"Malattia di Charcot-Marie-Tooth, tipo 4H","synonyms":["CMT4H"],"definition":"La malattia di Charcot-Marie-Tooth tipo 4H è un sottotipo della malattia di Charcot-Marie-Tooth tipo 4; è caratterizzata da neuropatia sensitivo-motoria demielinizzante grave a progressione lenta, che esordisce prima dei due anni di vita con ritardo dello sviluppo motorio (della deambulazione), andatura instabile, debolezza e atrofia dei muscoli distali (più accentuata agli arti inferiori), areflessia, ipoestesia simmetrica lieve con distribuzione a calza e malformazioni scheletriche (cifoscoliosi, collo corto, piede cavo ed equinismo). Si associa ad una marcata riduzione delle velocità di conduzione dei nervi."},"nl":{"name":"Ziekte van Charcot-Marie-Tooth type 4H","synonyms":["CMT4H"],"definition":"Ziekte van Charcot-Marie-Tooth type 4H is een subtype van ziekte van Charcot-Marie-Tooth type 4 en wordt gekarakteriseerd door ernstige, traag progressieve, demyeliniserende sensomotorische neuropathie die aanvangt voor de leeftijd van twee jaar en die zich manifesteert met vertraagde motorische ontwikkeling (stappen), onvaste gang, distale spierzwakte en -atrofie (prominenter in de onderste ledematen), areflexie, milde symmetrische hypo-esthesie met een sokvormige verdeling, en skeletmalformaties (incl. kyfoscoliose, korte hals, pes cavus (holvoet) en pes equinus (spitsvoet)). Ernstig gereduceerde zenuwgeleidingssnelheden zijn geassocieerd."},"pt":{"name":"Doença de Charcot-Marie-Tooth tipo 4H","definition":"A doença de Charcot-Marie-Tooth, tipo 4H (CMT4H) é uma polineuropatia periférica sensitivomotora desmielinizante."},"pl":{"name":"Choroba Charcota, Mariego i Tootha typu 4H","synonyms":["CMT4H"]},"cs":{"name":"Charcotova-Marieova-Toothova nemoc, typ 4H","synonyms":["CMT4H","Charcot-Marie-Toothova nemoc, typ 4H"]},"uk":{"name":"Хвороба Шарко-Марі-Тута, тип 4H","synonyms":["CMT4H"],"definition":"Charcot-Marie-Tooth disease type 4H is a subtype of Charcot-Marie-Tooth disease type 4 characterized by onset before two years of age of severe, slowly progressive, demyelinating sensorimotor neuropathy manifesting with delayed motor development (walking), unsteady gait, distal muscle weakness and atrophy (more prominent in the lower limbs), areflexia, mild symmetrical stocking-distribution hypoesthesia, and skeletal malformations (incl. kyphoscoliosis, short neck, pes cavus and pes equinus). Severely reduced nerve conduction velocities are associated."},"zh":{"name":"腓骨肌萎缩症4H型","synonyms":["CMT4H"],"definition":"Charcot-Marie-Tooth病4H型是Charcot-Marie-Tooth病4型的一个亚型，其特征是在两岁前起病，表现为严重的、进展缓慢的、脱髓鞘的感觉运动神经病，表现为运动发育延迟(行走)、步态不稳、远端肌肉无力和萎缩(在下肢更为突出)、反射障碍、轻度对称性储备分布感觉减退和骨骼畸形(包括脊柱后凸、短颈、弓形足和马蹄内翻)。神经传导速度严重减慢与此相关。"},"tr":{"name":"Charcot-Marie-Tooth hastalığı tip 4H","synonyms":["CMT4H"]}},"xrefs":[{"source":"OMIM","code":"609311","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":"214411126"},{"source":"MONDO","code":"0012250","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563740","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1836336","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":"FGD4","name":"FYVE, RhoGEF and PH domain containing 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23926620[PMID]_20301641[PMID]","hgnc":"19125","ensembl":"ENSG00000139132","omim":"611104","loci":["12p11.21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":15.0,"area":"Worldwide","status":"Validated","source":"23770104[PMID]_26400421[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23770104[PMID]_26400421[PMID]"}],"phenotypes":null}