{"orpha":99945,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2L","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMT2L"],"definition":"A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99945/","orphanet_url":"https://www.orpha.net/en/disease/detail/99945","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth autosomique dominante type 2L","synonyms":["CMT2L"],"definition":"La maladie de Charcot-Marie-Tooth autosomique dominante type 2L (CMT2L) est une forme de la maladie de Charcot-Marie-Tooth (une neuropathie sensorimotrice périphérique) axonale. Chez l'unique famille rapportée jusqu'à présent, l'âge d'apparition de la CMT2L varie entre 15 et 33 ans. Les patients présentent une faiblesse musculaire distale symétrique des jambes et occasionnellement des mains, des réflexes tendineux absents ou diminués, une perte de la sensibilité distale des jambes et souvent des pieds creux. La progression de la maladie est lente."},"de":{"name":"Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2L","synonyms":["CMT2L"],"definition":"Die autosomal-dominante Charcot-Marie-Tooth-Krankheit Typ 2L (CMT2L) ist eine Form der axonalen Charcot-Marie-Tooth-Krankheit, einer peripheren motorisch-sensorischen Neuropathie. In der einzigen bisher beschriebenen Familie begann die Krankheit im Alter zwischen 15 und 33 Jahren. Bei den Patienten bestehen eine symmetrische distale Muskelschwäche der Beine und gelegentlich der Hände, fehlende oder abgeschwächte Sehnenreflexe, an den Beinen distal sensorische Störungen und häufig ein Pes cavus. Die Krankheit ist langsam progredient."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2L","definition":"Es una forma de la enfermedad de Charcot-Marie-Tooth axonal, una neuropatía periférica sensitivo-motora. En la única familia registrada hasta la fecha, el debut de esta variante se produce entre los 15 y los 33 años. Los pacientes presentan debilidad distal y simétrica de las extremidades inferiores y, ocasionalmente, de las manos, ausencia o reducción de los reflejos tendinosos, pérdida sensitiva distal en las piernas y, con frecuencia, pie cavo. Es de progresión lenta."},"it":{"name":"Malattia di Charcot-Marie-Tooth autosomica dominante, tipo 2L","synonyms":["CMT2L"],"definition":"La malattia di Charcot-Marie-Tooth autosomica dominante tipo 2L (CMT2L) è una forma della malattia di Charcot-Marie-Tooth assonale, una neuropatia sensitivo-motoria periferica. Nell'unica famiglia descritta, l'esordio della CMT2L è avvenuto tra i 15 e i 33 anni. I pazienti presentavano debolezza distale simmetrica delle gambe e, raramente, delle mani, assenza o diminuzione dei riflessi tendinei, perdita sensoriale distale a livello delle gambe e, spesso, piedi cavi. La progressione è lenta."},"nl":{"name":"Autosomaal dominante ziekte van Charcot-Marie-Tooth type 2L","synonyms":["CMT2L"],"definition":"Een vorm van axonale ziekte van Charcot-Marie-Tooth, een perifere sensorimotorische neuropathie. In de enige familie die tot op heden werd gerapporteerd, vangt CMT2L tussen 15 en 33 jaar. Patiënten presenteren zich met een symmetrische, distale zwakte van de benen en occasioneel van de handen, afwezige of verminderde peesreflexen, zintuiglijk verlies in de distale benen en vaak een holvoet. Progressie is traag."},"pt":{"name":"Doença de Charcot-Marie-Tooth autossómica dominante tipo 2L"},"pl":{"name":"Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2L","synonyms":["CMT2L"]},"cs":{"name":"Autozomálně dominantní Charcotova-Marieova-Toothova nemoc, typ 2L","synonyms":["CMT2L","Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2L"]},"uk":{"name":"Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2L","synonyms":["CMT2L"],"definition":"A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow."},"zh":{"name":"常染色体显性遗传腓骨肌萎缩症2L型","synonyms":["CMT2L"],"definition":"常染色体显性遗传性Charcot-Marie-Tooth病2L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。到目前为止，在报道的单个家系中，CMT2L的发病年龄在15岁到33岁之间。患者出现对称性小腿远端无力，偶有手部无力，肌腱反射缺失或减少，小腿远端感觉丧失，经常出现弓形足。疾病进展缓慢。"},"tr":{"name":"Otozomal dominant Charcot-Marie-Tooth hastalığı tip 2L","synonyms":["CMT2L"]}},"xrefs":[{"source":"OMIM","code":"608673","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":"1592118409"},{"source":"MONDO","code":"0012096","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304673","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":"HSPB8","name":"heat shock protein family B (small) member 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301462[PMID]","hgnc":"30171","ensembl":"ENSG00000152137","omim":"608014","loci":["12q24.23"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"15021985[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_15021985[PMID]"}],"phenotypes":null}