{"orpha":401964,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons","CMT2 with giant axons","HMSN2 with giant axons"],"definition":"A rare subtype of axonal hereditary motor and sensory neuropathy characterized by distal muscle weakness and atrophy (principally of peroneal muscles) associated with distal sensory loss (tactile, vibration), pes cavus present since infancy or childhood, and axonal swelling with neurofilament accumulation on nerve biopsy. Other features may include hand muscle involvement, hypo/arreflexia, gait disturbances, muscle cramps, toe abnormalities and mild cardiomyopathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-401964/","orphanet_url":"https://www.orpha.net/en/disease/detail/401964","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth autosomique dominante type 2 avec axones géants","synonyms":["CMT2 avec axones géants","HMSN2 avec axones géants","Neuropathie sensitivo-motrice héréditaire autosomique dominante type 2 avec axones géants"],"definition":"Sous-type rare de neuropathie sensitivo-motrice héréditaire axonale caractérisé par une faiblesse et une atrophie des muscles distaux (principalement du péroné) associées à une perte de la sensibilité tactile et vibratoire au niveau des muscles distaux, à des pieds creux présents dès la petite enfance ou l'enfance, et à un gonflement des axones avec accumulation de neurofilaments observés lors de la biopsie du nerf. Les autres signes peuvent inclure une atteinte des muscles des mains, une hypo/aréflexie, des troubles de la marche, des crampes musculaires, des anomalies des orteils et une légère cardiomyopathie."},"de":{"name":"Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2, mit Riesen-Axonen","synonyms":["Autosomal-dominante hereditäre motorisch-sensorische Neuropathie Typ 2 mit Riesen-Axonen","CMT2 mit Riesen-Axonen","HMSN2 mit Riesen-Axonen"]},"es":{"name":"Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2 con axones gigantes","synonyms":["CMT2 con axones gigantes","HMSN2 con axones gigantes","Neuropatía hereditaria sensitivo-motora autosómica dominante tipo 2 con axones gigantes"],"definition":"La enfermedad de Charcot-Marie-Tooth tipo 2 autosómica dominante con axones gigantes es un subtipo de neuropatía axonal sensitivo-motora, hereditaria y poco frecuente, caracterizada por debilidad muscular y atrofia distal (principalmente de los músculos peroneos),pérdida de la sensibilidad distal (táctil, vibratoria), pies cavos desde la lactancia o la infancia, e inflamación axonal con acúmulo de neurofilamentos en biopsias de nervio. Otras características pueden incluir afectación de los músculos de la mano, hipo/arreflexia, trastornos de la marcha, calambres musculares, anomalías de los dedos del pie y miocardiopatía leve."},"it":{"name":"Malattia di Charcot-Marie-Tooth autosomica dominante tipo 2 con assoni giganti","synonyms":["CMT2 con assoni giganti","HMSN2 con assoni giganti","Neuropatia motoria e sensoriale ereditaria tipo 2, autosomica dominante, con assoni giganti"],"definition":"La malattia di Charcot-Marie-Tooth autosomica dominante tipo 2 con assoni giganti è un sottotipo raro di neuropatia motoria e sensoriale assonale ereditaria, caratterizzata da debolezza ed atrofia dei muscoli distali (per lo più dei muscoli peroneali), associate alla perdita sensoriale distale (tattile e del senso della vibrazione) e piede cavo ad esordio neonatale o infantile. La biopsia dei nervi evidenzia una tumefazione degli assoni con un accumulo dei neurofilamenti. Altri segni clinici comprendono l'interessamento dei muscoli delle mani, l'ipo/areflessia, le anomalie dell'andatura, i crampi muscolari, le anomalie delle dita dei piedi e la cardiomiopatia lieve."},"nl":{"name":"Autosomaal dominante ziekte van Charcot-Marie-Tooth type 2 met reuzenaxonen","synonyms":["Autosomaal dominante erfelijke motorische en sensorische neuropathie type 2 met reuzenaxonen","CMT2 met reuzenaxonen","HMSN2 met reuzenaxonen"],"definition":"Een zeldzaam subtype van axonale erfelijke motorische en sensorische neuropathie, gekarakteriseerd door zwakte en atrofie van distale spieren (voornamelijk musculus peroneus of laterale onderbeenspieren), geassocieerd met distaal zintuiglijk verlies (tactiel, vibratie), holvoet aanwezig sinds de zuigelingentijd of kindertijd, en axonale zwelling met accumulatie van neurofilament bij zenuwbiopsie. Andere mogelijke kenmerken zijn onder meer betrokkenheid van handspieren, hypo-/areflexie, gangstoornissen, spierkrampen, afwijkingen van de tenen, en milde cardiomyopathie."},"pt":{"name":"Doença de Charcot-Marie-Tooth autossómica dominante tipo 2 com axónios gigantes"},"pl":{"name":"Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2 z olbrzymimi aksonami","synonyms":["Autosomalna dominująca dziedziczna neuropatia ruchowa i czuciowa typu 2 z olbrzymimi aksonami","CMT2 z olbrzymimi aksonami","HMSN2 z olbrzymimi aksonami"],"definition":"*Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2 z olbrzymimi aksonami jest rzadkim podtypem dziedzicznej aksonalnej neuropatii ruchowo-czuciowej. Charakteryzuje się osłabieniem i zanikiem mięśni dystalnych (głównie mięśni strzałkowych) z dystalną utratą czucia (dotyku, wubracji), rozwojem stopy wydrążonej w niemowlęctwie lub dzieciństwie oraz obrzękiem aksonów z nagromadzeniem neurofilamentów w biopsji nerwu. Inne objawy mogą obejmować zajęcie mięśni dłoni, osłabienie/brak odruchów, zaburzenia chodu, skurcze mięśni, nieprawidłowości palców stóp i łagodną kardiomiopatię."},"cs":{"name":"Autozomálně dominantní Charcotova-Marieova-Toothova nemoc, typ 2 s obrovskými axony","synonyms":["CMT2 s obrovskými axony","HMSN2 s obrovskými axony","Autozomálně dominantní hereditární motorická a senzorická neuropatie, typ 2 s obrovskými axony","Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2 s obrovskými axony"]},"uk":{"name":"Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2 з гігантськими аксонами","synonyms":["Аутосомно-домінантна спадкова моторна та сенсорна нейропатія типу 2 з гігантськими аксонами","CMT2 з гігантськими аксонами","HMSN2 з гігантськими аксонами"],"definition":"A rare subtype of axonal hereditary motor and sensory neuropathy characterized by distal muscle weakness and atrophy (principally of peroneal muscles) associated with distal sensory loss (tactile, vibration), pes cavus present since infancy or childhood, and axonal swelling with neurofilament accumulation on nerve biopsy. Other features may include hand muscle involvement, hypo/arreflexia, gait disturbances, muscle cramps, toe abnormalities and mild cardiomyopathy."},"zh":{"name":"常染色体显性遗传夏科-马里-图斯病2型伴巨大轴突","synonyms":["常染色体显性遗传运动和感觉神经病2型伴巨大轴突"],"definition":"该病是轴突性遗传性运动和感觉神经病的一种罕见亚型，其特征为远端肉无力和萎缩（主要是腓骨肌肉），合并远端感觉丧失（触觉，振动），婴儿或儿童时期出现的高弓足，神经活检提示轴突肿胀、并在神经丝积聚。其他特征可能包括手部肌肉受累，反射不足/反射亢进，步态障碍，肌肉痉挛，脚趾畸形和轻度心肌病。"},"tr":{"name":"Dev aksonlar ile seyreden otozomal dominant Charcot-Marie-Tooth hastalığı tip 2","synonyms":["Giant akson ile seyreden CMT2","Giant aksonlar ile seyreden HMSN2","Dev aksonlar ile seyreden otozomal baskın motor ve sensör nöropati tip 2"]}},"xrefs":[{"source":"OMIM","code":"610100","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0012411","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190585","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12447","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":"DCAF8","name":"DDB1 and CUL4 associated factor 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24500646[PMID]","hgnc":"24891","ensembl":"ENSG00000132716","omim":"615820","loci":["1q23.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"24500646[PMID]_15111691[PMID]_14557576[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24500646[PMID]_15111691[PMID]_14557576[PMID]"}],"phenotypes":null}