{"orpha":521414,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2DD","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ATP1A1-related CMT2","ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2","CMT2DD"],"definition":"A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by predominantly distal weakness and muscle atrophy, decreased or absent tendon reflexes, and reduced vibratory sensation in the lower and upper extremities. Pes cavus develops in many patients. Additional symptoms like ataxia, tremor, or swallowing difficulties have been reported. Patients usually remain ambulatory even late in the disease. Age of onset ranges from childhood to adulthood, with earlier onset tending to be associated with a more severe disease phenotype.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-521414/","orphanet_url":"https://www.orpha.net/en/disease/detail/521414","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth autosomique dominante type 2DD","synonyms":["CMT2 associée à ATP1A1","CMT2DD","Maladie de Charcot-Marie-Tooth autosomique dominante type 2 associée à ATP1A1"],"definition":"Neuropathie sensitivo-motrice axonale héréditaire autosomique dominante rare caractérisée par une faiblesse et une atrophie musculaire principalement distales, une diminution ou une absence des réflexes tendineux et une sensation vibratoire réduite dans les membres inférieures et supérieures. Le pes cavus se développe chez de nombreux patients. Les autres signes cliniques rapportés sont une l'ataxie, des tremblements ou les difficultés de déglutition. Les patients préservent généralement l'autonomie de la marche, même à un stade avancé de la maladie. L'âge d'apparition varie de l'enfance à l'âge adulte, une apparition plus précoce étant généralement associée à un phénotype plus sévère de la maladie."},"de":{"name":"Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2DD","synonyms":["ATP1A1-assoziierte CMT2","ATP1A1-assoziierte autosomal-dominante Charcot-Marie-Tooth-Krankheit Typ 2","CMT2DD"],"definition":"Eine autosomal-dominante hereditäre motorisch-sensorische axonale Neuropathie, die durch eine vorwiegend distale Schwäche und Muskelatrophie, verminderte oder fehlende Sehnenreflexe und ein vermindertes Vibrationsempfinden in den unteren und oberen Extremitäten gekennzeichnet ist. Bei vielen Patienten entwickelt sich ein Pes cavus. Zusätzliche Symptome wie Ataxie, Tremor oder Schluckbeschwerden wurden berichtet. Die Patienten bleiben in der Regel auch im fortgeschrittenen Stadium der Erkrankung gehfähig. Das Alter des Ausbruchs reicht von der Kindheit bis zum Erwachsenenalter, wobei ein früherer Ausbruch tendenziell mit einem schwereren Krankheitsbild verbunden ist."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2DD","synonyms":["CMT2 asociada a ATP1A1","CMT2DD","Enfermedad de Charcot-Marie-Tooth autosómica dominante asociada a ATP1A1 tipo 2"],"definition":"Es una neuropatía axonal sensitivo-motora hereditaria autosómica dominante poco frecuente, caracterizada por debilidad y atrofia muscular predominantemente distal, disminución o ausencia de los reflejos tendinosos y reducción de la sensibilidad vibratoria en las extremidades inferiores y superiores. Muchos pacientes desarrollan pie cavo. Se han descrito otros síntomas adicionales tales como ataxia, temblor o disfagia. Los pacientes suelen mantener la deambulación incluso en etapas tardías de la enfermedad. La edad de inicio varía desde la niñez hasta la edad adulta, el inicio temprano tiende a asociarse a un fenotipo más grave de la enfermedad"},"it":{"name":"Malattia di Charcot-Marie-Tooth autosomica dominante tipo 2DD","synonyms":["CMT2 ATP1A1-correlata","CMT2DD","Malattia di Charcot-Marie-Tooth tipo 2 autosomica dominante ATP1A1-correlata"],"definition":"Si tratta di una neuropatia sensitivo-motoria assonale ereditaria rara, a trasmissione autosomica dominante, caratterizzata da debolezza e atrofia muscolare prevalentemente distali, riduzione o assenza dei riflessi tendinei e riduzione del senso della vibrazione negli arti inferiori e superiori. Molti pazienti presentano piede cavo. Può associarsi anche ad atassia, tremori o difficoltà di deglutizione. Di solito i pazienti conservano la capacità di camminare, anche nelle fasi più avanzate della malattia, che esordisce tra l'infanzia e l'età adulta. Un esordio più precoce tende ad associarsi ad un fenotipo più grave."},"nl":{"name":"Autosomaal dominante ziekte van Charcot-Marie-Tooth type 2DD","synonyms":["ATP1A1-gerelateerde CMT2","ATP1A1-gerelateerde autosomaal dominante ziekte van Charcot-Marie-Tooth type 2","CMT2DD"],"definition":"Een zeldzame, autosomaal dominant hereditaire axonale motorische en sensorische neuropathie, gekarakteriseerd door zwakte en atrofie van hoofdzakelijk distale spieren, verminderde of afwezige peesreflexen, en verminderde vibratiezin in onderste en bovenste ledematen. Bij vele patiënten ontwikkelt pes cavus (holvoet). Bijkomende symptomen zoals ataxie, tremor, of moeilijkheden met slikken werden reeds gerapporteerd. Patiënten blijven meestal ambulant, zelfs in latere stadia van de ziekte. De aanvangsleeftijd varieert van de kindertijd tot de volwassenheid, en een vroegere aanvang is eerder geassocieerd met een ernstiger fenotype van de ziekte."},"pt":{"name":"Doença Charcot-Marie-Tooth autossómica dominante tipo 2DD"},"pl":{"name":"Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2DD","synonyms":["CMT2DD","ATP1A1-związana z CMT2","Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2 związana z ATP1A1"]},"cs":{"name":"Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2DD","synonyms":["CMT2DD","ATP1A1-vázaná CMT2","ATP1A1-vázaná autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2"]},"uk":{"name":"Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2DD","synonyms":["Хвороба Шарко-Марі-Тута, тип 2, зчеплена з АТФ1А1, аутосомно-домінантна хвороба Шарко-Марі-Тута","CMT2, повязаний з ATP1A1","CMT2DD"],"definition":"A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by predominantly distal weakness and muscle atrophy, decreased or absent tendon reflexes, and reduced vibratory sensation in the lower and upper extremities. Pes cavus develops in many patients. Additional symptoms like ataxia, tremor, or swallowing difficulties have been reported. Patients usually remain ambulatory even late in the disease. Age of onset ranges from childhood to adulthood, with earlier onset tending to be associated with a more severe disease phenotype."},"zh":{"name":"常染色体显性遗传性夏科-马里-图斯病2DD型","synonyms":["ATP1A1相关常染色体显性夏科-马里-图斯病2型"],"definition":"一种罕见的常染色体显性遗传性轴索运动和感觉神经病，以远端肌无力和肌肉萎缩为主，腱反射减弱或消失，下肢和上肢振动感觉减弱为特征。很多患者会出现高弓足。据报道，还有其他症状如共济失调、震颤或吞咽困难。患者通常在疾病晚期仍可行走。发病年龄从儿童到成人不等，发病时间越早，疾病表型往往越严重。"},"tr":{"name":"Otozomal dominant Charcot-Marie-Tooth hastalığı tipi 2DD","synonyms":["CMT2DD","ATP1A1-ilişkili CMT2","ATP1A1 ilişkili otozomal dominant Charcot-Marie-Tooth hastalığı tip 2"]}},"xrefs":[{"source":"OMIM","code":"618036","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0054833","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4747974","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":"ATP1A1","name":"ATPase Na+/K+ transporting subunit alpha 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29499166[PMID]","hgnc":"799","ensembl":"ENSG00000163399","omim":"182310","loci":["1p13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":51.0,"area":"Worldwide","status":"Validated","source":"29499166[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_29499166[PMID]"}],"phenotypes":null}