{"orpha":99940,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2F","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMT2F"],"definition":"A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. It presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99940/","orphanet_url":"https://www.orpha.net/en/disease/detail/99940","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth autosomique dominante type 2F","synonyms":["CMT2F"],"definition":"La maladie de Charcot-Marie-Tooth autosomique dominante type 2F (CMT2F) est une forme de la maladie de Charcot-Marie-Tooth (une neuropathie sensorimotrice périphérique) axonale. La CMT2F est caractérisée par une faiblesse musculaire symétrique survenant principalement au niveau des membres inférieurs (les muscles distaux dans la majorité des cas) et atteignant les membres supérieurs seulement après 5 à 10 ans, occasionnellement une perte de la sensibilité principalement distale, et une diminution des réflexes tendineux. La CMT2F se présente par une anomalie de la démarche entre la première et la sixième décennie, une apparition précoce étant généralement associée à un phénotype plus sévère qui peut inclure un pied tombant."},"de":{"name":"Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2F","synonyms":["CMT2F"],"definition":"Die autosomal-dominante Charcot-Marie-Tooth-Krankheit Typ 2F (CMT2F) ist eine Form der axonalen Charcot-Marie-Tooth-Krankheit, einer peripheren motorisch-sensorischen Neuropathie. Die CMT2F ist gekennzeichnet (i) durch symmetrische Muskelschwäche, die primär in den unteren Gliedmassen auftritt (bei den meisten Fällen in den distalen Muskeln) und die Arme erst nach 5-10 Jahren erreicht, (ii) durch gelegentlichen, vor allem distalen Verlust des Sensoriums und (iii) durch abgeschwächte Sehnenreflexe. Die CMT2F manifestiert sich mit einer zwischen dem 1. und 6. Lebensjahrzehnt auftretenden Gangstörung. Ein früherer Beginn ist in der Regel mit einem schwereren Phänotyp, z.B. Fallfuß, verbunden."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2F","definition":"Es una forma de la enfermedad de Charcot-Marie-Tooth axonal, una neuropatía periférica sensitivo-motora, caracterizada por debilidad simétrica que se da principalmente en los miembros inferiores (en los músculos distales en la mayoría de los casos) y que afecta a los miembros superiores entre 5-10 años más tarde, pérdida sensorial ocasional y predominantemente distal y reducción de los reflejos tendinosos. Se presenta con marcha anómala entre la 1ª y la 6ª década y la aparición temprana se asocia generalmente a una patología más grave que puede incluir el pie caído."},"it":{"name":"Malattia di Charcot-Marie-Tooth autosomica dominante, tipo 2F","synonyms":["CMT2F"],"definition":"La malattia di Charcot-Marie-Tooth tipo 2F (CMT2F) è una forma della malattia di Charcot-Marie-Tooth assonale, una neuropatia sensitivo-motoria periferica. La CMT2F è caratterizzata da debolezza simmetrica che interessa primariamente gli arti inferiori (muscoli distali nella maggior parte dei casi) e colpisce le braccia solo dopo 5-10 anni, con perdita sensoriale occasionale, per lo più distale, e diminuzione dei riflessi tendinei. La CMT2F si manifesta con un'andatura anomala tra la prima e la sesta decade di vita e, in genere, l'esordio precoce si associa a un fenotipo più grave che può comportare \"piedi ciondolanti\"."},"nl":{"name":"Autosomaal dominante ziekte van Charcot-Marie-Tooth type 2F","synonyms":["CMT2F"],"definition":"Een vorm van axonale ziekte van Charcot-Marie-Tooth, een perifere sensorimotorische neuropathie, gekarakteriseerd door symmetrische zwakte die eerst voorkomt in de onderste ledematen (distale spieren in de meerderheid van de gevallen) en pas na 5 tot 10 jaar de armen bereikt, occasioneel en vooral distaal zintuiglijk verlies en verminderde peesreflexen. Het presenteert zich met ganganomalie tussen het eerste en zesde levensdecennium, en een vroege aanvang is doorgaans geassocieerd met een ernstiger fenotype dat mogelijk onder meer klapvoet omvat."},"pt":{"name":"Doença de Charcot-Marie-Tooth autossómica dominante tipo 2F"},"pl":{"name":"Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2F","synonyms":["CMT2F"]},"cs":{"name":"Autozomálně dominantní Charcotova-Marieova-Toothova nemoc, typ 2F","synonyms":["CMT2F","Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2F"]},"uk":{"name":"Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2F","synonyms":["CMT2F"],"definition":"A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. It presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop."},"zh":{"name":"常染色体显性遗传腓骨肌萎缩症2F型","synonyms":["CMT2F"],"definition":"常染色体显性遗传性Charcot-Marie-Tooth病2F型是轴索性Charcot-Marie-Tooth病的一种形式，是一种外周感觉运动性神经病，其特征是对称性无力，主要发生在下肢(大多数情况下为远端肌肉)，5至10年后才能到达手臂，偶尔且主要是远端感觉丧失，肌腱反射减弱。它在十岁到六十几岁间表现为步态异常，早期发病通常与更严重的表型有关，可能包括足部下垂。"},"tr":{"name":"Otozomal dominant Charcot-Marie-Tooth hastalığı tip 2F","synonyms":["CMT2F"]}},"xrefs":[{"source":"OMIM","code":"606595","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C20.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1970894933"},{"source":"MONDO","code":"0011687","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535413","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1847823","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9194","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":64746,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2","classifications":[156,181]}],"children":[],"genes":[{"symbol":"HSPB1","name":"heat shock protein family B (small) member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301462[PMID]","hgnc":"5246","ensembl":"ENSG00000106211","omim":"602195","loci":["7q11.23"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Elderly"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"16087758[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_16087758[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-05-03","source":"11528513[PMID]","terms":[{"hpo":"HP:0008944","label":"Distal lower limb amyotrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003444","label":"EMG: chronic denervation signs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003445","label":"EMG: neuropathic changes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007328","label":"Impaired pain sensation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010829","label":"Impaired temperature sensition","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007289","label":"Limb fasciculations","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003477","label":"Peripheral axonal neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003376","label":"Steppage gait","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009129","label":"Upper limb amyotrophy","frequency":"Very frequent (99-80%)","criteria":null}]}}