{"orpha":300319,"name":"Charcot-Marie-Tooth disease type 2P","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMT2P"],"definition":"Charcot-Marie-Tooth disease type 2P is a rare, genetic, axonal hereditary motor and sensory neuropathy disorder characterized by adulthood-onset of slowly progressive, occasionally asymmetrical, distal muscle weakness and atrophy (predominantly in the lower limbs), pan-modal sensory loss, muscle cramping in extremities and/or trunk, pes cavus and absent or reduced deep tendon reflexes. Gait anomalies and variable autonomic disturbances, such as erectile dysfunction and urinary urgency, may be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-300319/","orphanet_url":"https://www.orpha.net/en/disease/detail/300319","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth type 2P","synonyms":["CMT2P"],"definition":"Neuropathie sensitivo-motrice héréditaire axonale rare d'origine génétique, caractérisée par l'apparition à l'âge adulte d'une faiblesse et d'une atrophie musculaires distales lentement progressives, parfois asymétriques (affectant principalement les membres inférieurs), par une perte sensorielle de l'ensemble des modalités, des crampes musculaires affectant les extrémités et/ou le tronc, les pieds creux et par une absence ou une diminution des réflexes tendineux profonds. Des anomalies de la démarche et des troubles autonomes inconstants, tels qu'une dysfonction érectile et des urgences mictionnelles peuvent être associés."},"de":{"name":"Charcot-Marie-Tooth-Krankheit Typ 2P","synonyms":["CMT2P"]},"es":{"name":"Enfermedad de Charcot-Marie-Tooth tipo 2P","synonyms":["CMT2P"],"definition":"La enfermedad de Charcot-Marie-Tooth (CMT) tipo 2P es un subtipo genético poco frecuente de la enfermedad de CMT axonal, genética y poco frecuente, caracterizada por la aparición en la edad adulta de debilidad muscular distal y atrofia (predominantemente en las extremidades inferiores) lentamente progresiva y, ocasionalmente, asimétrica, pérdida de todas las modalidades de la sensibilidad, calambres musculares en las extremidades y/o el tronco, pie cavo y reflejos tendinosos profundos ausentes o reducidos. Se pueden asociar anomalías de la marcha y trastornos autonómicos variables, tales como disfunción eréctil y tenesmo vesical."},"it":{"name":"Malattia di Charcot-Marie-Tooth tipo 2P","definition":"La malattia di Charcot-Marie-Tooth tipo 2P è una neuropatia motoria e sensoriale assonale ereditaria rara, di origine genetica, che esordisce nell'età adulta con debolezza ed atrofia dei muscoli distali, occasionalmente asimmetrica, a progressione lenta (prevalentemente negli arti inferiori), perdita sensoriale generalizzata, crampi muscolari a livello degli arti e/o del torace, piede cavo e riduzione o assenza dei riflessi tendinei profondi. Può associarsi ad anomalie dell'andatura e del sistema autonomo, come la disfunzione erettile e l'urgenza minzionale."},"nl":{"name":"Ziekte van Charcot-Marie-Tooth type 2P","synonyms":["CMT2P"],"definition":"Ziekte van Charcot-Marie-Tooth type 2P is een zeldzame, genetische, axonale, erfelijke motorische en sensorische neuropathie die gekarakteriseerd wordt door aanvang in de volwassenheid van traag progressieve, occasioneel asymmetrische, zwakte en atrofie van distale spieren (voornamelijk in de onderste ledematen), pan-modaal zintuiglijk verlies, spierkrampen in de ledematen en/of romp, pes cavus en afwezige of verminderde diepe peesreflexen. Ganganomalieën en variabele autonome stoornissen, zoals erectiestoornis en urinaire urgentie, kunnen geassocieerd zijn."},"pt":{"name":"Doença Charcot-Marie-Tooth tipo 2P autossómica dominante","synonyms":["CMT2P"]},"pl":{"name":"Choroba Charcota, Mariego i Tootha typu 2P","synonyms":["CMT2P"],"definition":"*Choroba Charcota, Mariego i Tootha typu 2P jest rzadką, genetycznie uwarunkowaną, dziedziczną neuropatią aksonalną ruchowo-czuciową, która charakteryzuje wolno postępującym, czasami asymetrycznym osłabieniem i zanikiem mięśni dystalnych (głównie kończyn dolnych) o początku w wieku dorosłym, zaburzeniami wszystkich rodzajów czucia, skurczami mięśni kończyn i/lub tułowia, obecnością stopy wydrążonej i brakiem lub osłabieniem głębokich odruchów ścięgnistych. Mogą towarzyszyć zaburzenia chodu i zmienne objawy z układu autonomicznego, w tym zaburzenia erekcji i nagłe parcie na mocz."},"cs":{"name":"Charcotova-Marieova-Toothova nemoc, typ 2P","synonyms":["CMT2P","Charcot-Marie-Toothova nemoc, typ 2P"]},"uk":{"name":"Хвороба Шарко-Марі-Тута, тип 2P","synonyms":["CMT2P"],"definition":"Charcot-Marie-Tooth disease type 2P is a rare, genetic, axonal hereditary motor and sensory neuropathy disorder characterized by adulthood-onset of slowly progressive, occasionally asymmetrical, distal muscle weakness and atrophy (predominantly in the lower limbs), pan-modal sensory loss, muscle cramping in extremities and/or trunk, pes cavus and absent or reduced deep tendon reflexes. Gait anomalies and variable autonomic disturbances, such as erectile dysfunction and urinary urgency, may be associated."},"zh":{"name":"Charcot-Marie-Tooth病2P型","synonyms":["Charcot-Marie-Tooth病2P型"],"definition":"2P型夏科-马里-图斯症是一种罕见的遗传性轴索遗传性运动和感觉神经病变，其特征是成年后出现缓慢进行性、偶有不对称的远端肌无力和肌萎缩（主要发生在下肢）、泛模态感觉丧失、四肢和/或躯干肌肉痉挛、高弓足、腱反射不能引出或减弱。步态异常和各种自主神经紊乱，如勃起功能障碍和尿急。"},"tr":{"name":"Charcot-Marie-Tooth hastalığı tipi 2P","synonyms":["CMT2P"]}},"xrefs":[{"source":"OMIM","code":"614436","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"13753","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3280797","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12435","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":99941,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2G","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":64746,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2","classifications":[156,181]},{"orpha":91024,"name":"Autosomal recessive axonal hereditary motor and sensory neuropathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"LRSAM1","name":"leucine rich repeat and sterile alpha motif containing 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301462[PMID]","hgnc":"25135","ensembl":"ENSG00000148356","omim":"610933","loci":["9q33.3-q34.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":18.0,"area":"Worldwide","status":"Validated","source":"22781092[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}