{"orpha":324611,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMT2 due to KIF5A mutation"],"definition":"A rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-324611/","orphanet_url":"https://www.orpha.net/en/disease/detail/324611","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth autosomique dominante type 2 due à une mutation de KIF5A","synonyms":["CMT2 due à une mutation de KIF5A"],"definition":"Une forme rare de neuropathie sensorimotrice périphérique axonale. Elle se caractérise par les signes et symptômes classiques de la maladie de Charcot-Marie-Tooth type 2 (faiblesse et atrophie progressive des muscles des membres distaux, légers troubles de la sensation de la position, la vibration et la douleur/température, des pieds creux, ainsi que des potentiels d'action musculaires et sensoriels réduits ou absents, de manière symétrique, avec des vitesses de conduction nerveuse relativement préservées dans des études neurophysiologiques), ainsi qu'une atteinte des voies pyramidales (spasticité, hyperréflexie). La spasticité et la douleur peuvent être les symptômes de présentation de la maladie."},"de":{"name":"Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2, durch KIF5A-Genmutation","synonyms":["CMT2 durch KIF5A-Genmutation"],"definition":"Eine seltene Form der axonalen peripheren sensomotorischen Neuropathie, die durch klassische CMT2-Zeichen und -Symptome (fortschreitende Schwäche und Atrophie der Muskeln der distalen Gliedmaßen, leichte sensorische Defizite in Bezug auf Position, Vibration und Schmerz/Temperatur, Pes cavus und symmetrisch fehlende oder reduzierte Muskel- und sensorische Aktionspotenziale (bei relativ erhaltenen Nervenleitgeschwindigkeiten in neurophysiologischen Untersuchungen) sowie eine Beteiligung der Pyramidenbahn (Spastik, Hyperreflexie) gekennzeichnet ist. Spastizität und Schmerzen können die präsentierenden Symptome sein."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2 por una mutación en el gen KIF5A","synonyms":["CMT2 por una mutación en el gen KIF5A"],"definition":"Es una forma poco frecuente de neuropatía periférica sensitivo-motora axonal caracterizada por los signos y síntomas clásicos de CMT2 (debilidad progresiva y atrofia de los músculos distales de las extremidades, leve afectación de la sensibilidad posicional, vibratoria y termoalgésica, pie cavo, y potenciales de acción muscular y sensitivo ausentes o reducidos de forma simétrica con velocidades de conducción nerviosa relativamente conservadas en estudios neurofisiológicos), así como afectación piramidal (espasticidad, hiperreflexia). La espasticidad y el dolor pueden ser los síntomas de presentación."},"it":{"name":"Malattia di Charcot-Marie-Tooth tipo 2 autosomica dominante da mutazione di KIF5A","synonyms":["CMT2 da mutazione di KIF5A"],"definition":"La malattia di Charcot-Marie-Tooth tipo 2 autosomica dominante da mutazione di KIF5A è una forma rara di neuropatia sensitivo-motoria periferica assonale, caratterizzata dai segni clinici e i sintomi tipici della CMT2 (debolezza e atrofia progressiva dei muscoli della porzione distale degli arti, lievi deficit sensoriali di posizione, vibrazione e dolore/temperatura, piede cavo, assenza o riduzione simmetrica dei potenziali di azione muscolare e sensoriale, con velocità di conduzione dei nervi relativamente conservata, come evidenziato dagli esami neurofisiologici), associati a un interessamento piramidale (spasticità, iperreflessia). I segni d'esordio comprendono la spasticità e il dolore."},"nl":{"name":"Autosomaal dominante ziekte van Charcot-Marie-Tooth type 2 door KIF5A-mutatie","synonyms":["CMT2 door KIF5A-mutatie"],"definition":"Een zeldzame vorm van axonale perifere sensomotorische neuropathie, gekarakteriseerd door klassieke tekenen en symptomen van CMT2 (progressieve spierzwakte en -atrofie van distale ledematen, milde sensorische stoornissen voor positie, vibratie en pijn/temperatuur, pes cavus, en symmetrisch afwezige of verminderde musculaire en sensorische actiepotentialen met relatief bewaarde zenuwgeleidingssnelheden in neurofysiologische onderzoeken), alsook betrokkenheid van de piramidebaan (spasticiteit, hyperreflexie). Spasticiteit en pijn zijn mogelijk de presenterende symptomen."},"pt":{"name":"Doença de Charcot-Marie-Tooth autossómica dominante tipo 2 devida a mutação KIF5A"},"pl":{"name":"Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2 z powodu mutacji KIF5A","synonyms":["CMT z powodu mutacji KIF5A"]},"cs":{"name":"Autozomálně dominantní Charcotova-Marieova-Toothova nemoc, typ 2, způsobený KIF5A mutací","synonyms":["CMT2 způsobená KIF5A mutací","Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2, způsobený KIF5A mutací"]},"uk":{"name":"Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2, зумовлена мутацією KIF5A","synonyms":["CMT2 внаслідок мутації KIF5A"],"definition":"A rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms."},"zh":{"name":"KIF5A基因突变所致常染色体显性遗传夏科-马里-图斯症2型","synonyms":["KIF5A基因突变所致夏科-马里-图斯病2型"],"definition":"一种罕见的轴索性周围感觉运动神经病，其特征是典型的CMT2征和症状（肢体远端肌肉进行性无力和萎缩，位置、振动和疼痛/温度的轻度感觉缺陷，高足弓，对称性肌肉和感觉动作电位减少或消失，神经传导速度相对保留）以及锥体束受累（痉挛、反射亢进）。痉挛和疼痛是最常见症状。"},"tr":{"name":"KIF5A mutasyonuna bağlı otozomal dominant Charcot-Marie-Tooth hastalığı tip 2","synonyms":["KIF5A mutasyonuna bağlı CMT2"]}},"xrefs":[{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017940","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707173","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":"KIF5A","name":"kinesin family member 5A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21623771[PMID]","hgnc":"6323","ensembl":"ENSG00000155980","omim":"602821","loci":["12q13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood","Elderly","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}