{"orpha":443950,"name":"DNAJB2-related Charcot-Marie-Tooth disease type 2","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["DNAJB2-related CMT2"],"definition":"A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by adolescent or adult onset of slowly progressive muscle weakness and atrophy of the distal lower limbs progressing to involve also the upper limbs and proximal muscles, and sensory impairment. Patients present gait disturbances and loss of reflexes, at later stages loss of ambulation, dysarthria, dysphagia, facial weakness, and impairment of respiratory muscles requiring assisted ventilation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-443950/","orphanet_url":"https://www.orpha.net/en/disease/detail/443950","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth type 2 associée à DNAJB2","synonyms":["CMT2 associée à DNAJB2"],"definition":"Neuropathie motrice et sensitive axonale autosomique récessive héréditaire rare, caractérisée par l'apparition à l'adolescence ou à l'âge adulte d'une faiblesse et d'une atrophie musculaires lentement progressives des muscles distaux des membres inférieurs, puis des membres supérieurs et des muscles proximaux, ainsi que d'une déficience sensorielle. Les patients présentent des troubles de la marche et une perte des réflexes, à des stades plus avancés, une perte de la mobilité, une dysarthrie, une dysphagie, une faiblesse faciale et une atteinte des muscles respiratoires nécessitant une ventilation assistée."},"de":{"name":"Charcot-Marie-Tooth-Krankheit, autosomal-rezessive, Typ 2, DNAJB2-assoziierte","synonyms":["DNAJB2-assoziierte CMT2"],"definition":"Eine seltene autosomal-rezessiv hereditäre motorische und sensorische Neuropathie, die im Jugend- oder Erwachsenenalter mit einer langsam fortschreitenden Muskelschwäche und -atrophie der distalen unteren Gliedmaßen beginnt und im weiteren Verlauf auch die oberen Gliedmaßen und die proximalen Muskeln sowie sensorische Beeinträchtigungen betrifft. Die Patienten zeigen Gangstörungen und den Verlust von Reflexen, in späteren Stadien den Verlust des Gehvermögens, Dysarthrie, Dysphagie, Schwäche der Fazialmuskeln und eine Beeinträchtigung der Atemmuskulatur, die eine unterstützte Beatmung erfordert."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth tipo 2 asociada a DNAJB2","synonyms":["CMT2 asociada a DNAJB2"],"definition":"Es una neuropatía axonal sensitivo-motora autosómica recesiva poco frecuente caracterizada por la aparición en la adolescencia o en la edad adulta de debilidad muscular lentamente progresiva y atrofia distal de las extremidades inferiores que progresa hasta afectar también a las extremidades superiores y a los músculos proximales, así como alteraciones sensitivas. Los pacientes presentan trastornos de la marcha y pérdida de reflejos y, en etapas posteriores, pérdida de la deambulación, disartria, disfagia, debilidad facial y afectación de los músculos respiratorios que requiere ventilación asistida."},"it":{"name":"Malattia di Charcot-Marie-Tooth tipo 2 correlata a DNAJB2","synonyms":["CMT2 correlata a DNAJB2"],"definition":"Si tratta di una neuropatia sensitivo-motoria assonale ereditaria rara, a trasmissione autosomica recessiva, che esordisce nell'adolescenza o nell'età adulta con debolezza e atrofia muscolare a progressione lenta, che interessano la porzione distale degli arti inferiori e progrediscono negli arti superiori e nei muscoli prossimali. Sono anche presenti deficit sensoriali. I pazienti mostrano anomalie dell'andatura, perdita dei riflessi e, negli stadi più avanzati della malattia, perdita della deambulazione, disartria, disfagia, debolezza facciale e la compromissione dei muscoli respiratori che rende necessaria la ventilazione assistita."},"nl":{"name":"DNAJB2-gerelateerde ziekte van Charcot-Marie-Tooth type 2","synonyms":["DNAJB2-gerelateerde CMT2"],"definition":"Een zeldzame autosomaal recessieve axonale hereditaire motorische en sensorische neuropathie, gekarakteriseerd door aanvang in de adolescentie of volwassenheid van traag progressieve spierzwakte en -atrofie van distale onderste ledematen met progressie tot betrokkenheid van bovenste ledematen en proximale spieren, en sensorische beperking. Patiënten present eren zich met gangstoornissen en verlies van reflexen, in latere stadia verlies van zelfstandig loopvermogen, dysartrie, dysfagie, zwakte van aangezichtsspieren, en functiestoornis van ademhalingsspieren waardoor ademhalingsondersteuning vereist is."},"pt":{"name":"Doença Charcot-Marie-Tooth tipo 2 DNAJB2-relacionada","synonyms":["CMT2 DNAJB2-relacionada"]},"pl":{"name":"Choroba Charcota, Mariego i Tootha typu 2T","synonyms":["AR-CMT2T","Autosomalna recesywna aksonalna choroba Charcota, Mariego i Tootha typu 2T","CMT2T","Choroba Charcot-Marie-Tooth typu 2 związana z DNAJB2"]},"cs":{"name":"DNAJB2-vázaná Charcot-Marie-Toothova nemoc, typ 2","synonyms":["DNAJB2-related CMT2","Charcot-Marie-Toothova nemoc, typ 2T","DNAJB2-vázaná CMT2"]},"uk":{"name":"Хвороба Шарко-Марі-Тута, тип 2, повязана з DNAJB2","synonyms":["CMT2, повязаний з DNAJB2"],"definition":"A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by adolescent or adult onset of slowly progressive muscle weakness and atrophy of the distal lower limbs progressing to involve also the upper limbs and proximal muscles, and sensory impairment. Patients present gait disturbances and loss of reflexes, at later stages loss of ambulation, dysarthria, dysphagia, facial weakness, and impairment of respiratory muscles requiring assisted ventilation."},"zh":{"name":"DNAJB2相关Charcot-Marie-Tooth病 2型","synonyms":["DNAJB2相关 CMT2"],"definition":"罕见的常染色体隐性遗传性轴突遗传性运动和感觉神经病，特征是青春期或成人发作的缓慢进行性肌无力和远端下肢萎缩，也累及上肢和近端肌肉以及感觉障碍。患者表现出步态障碍和反射丧失，在后期会出现下肢活动障碍，构音障碍，吞咽困难，面部无力以及需要辅助通气的呼吸肌受损。"},"tr":{"name":"DNAJB2-ilişkili Charcot-Marie-Tooth hastalığı tip 2","synonyms":["DNAJB2-ilişkili CMT2"]}},"xrefs":[{"source":"OMIM","code":"614881","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"14866","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5569053","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":91024,"name":"Autosomal recessive axonal hereditary motor and sensory neuropathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"DNAJB2","name":"DnaJ heat shock protein family (Hsp40) member B2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25274842[PMID]","hgnc":"5228","ensembl":"ENSG00000135924","omim":"604139","loci":["2q35"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"25274842[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25274842[PMID]"}],"phenotypes":null}