{"orpha":101077,"name":"X-linked Charcot-Marie-Tooth disease type 3","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMT3X","CMTX3"],"definition":"A rare genetic peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the childhood onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pansensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-101077/","orphanet_url":"https://www.orpha.net/en/disease/detail/101077","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth liée à l'X type 3","synonyms":["CMT3X","CMTX3"],"definition":"Neuropathie sensorimotrice périphérique génétique rare, caractérisée par un mode de transmission récessif lié à l'X et par l'apparition dans l'enfance d'une faiblesse et d'une atrophie musculaires distales et progressives (commençant par les membres inférieurs et progressant vers les membres supérieurs), ainsi que d'une perte sensitive distale affectant les membres supérieurs et inférieurs, d'un pied creux et d'une diminution ou d'une abolition de réflexes tendineux distaux. La douleur et la paresthésie sont souvent les premiers symptômes sensitifs."},"de":{"name":"Charcot-Marie-Tooth-Krankheit, X-chromosomale, Typ 3","synonyms":["CMTX3"],"definition":"Eine seltene periphere sensomotorische Neuropathie, die in der Kindheit zu einer fortschreitenden distalen Muskelschwäche und -atrophie (zunächst in den unteren, dann in den oberen Extremitäten) sowie zu einem distalen sensorischen Verlust in den oberen und unteren Extremitäten, einem Pes cavus und fehlenden oder verminderten distalen Sehnenreflexen führt. Schmerzen und Parästhesien zählen zu den ersten sensorischen Symptomen. Die Störung ist genetisch bedingt und wird X-chromosomal-rezessiv vererbt."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth ligada al cromosoma X tipo 3","synonyms":["CMT3X","CMTX3"],"definition":"Es una neuropatía sensitivomotora periférica, poco frecuente y de base genética, caracterizada por un patrón de herencia recesivo ligado al cromosoma X y por el inicio en la infancia de debilidad y atrofia muscular distal progresiva (que comienza en las extremidades inferiores afectando posteriormente a las extremidades superiores), así como pérdida pansensorial distal en las extremidades superiores e inferiores, pie cavo y disminución o ausencia de los reflejos tendinosos distales. El dolor y la parestesia suelen ser los síntomas sensitivos de presentación."},"it":{"name":"Malattia di Charcot-Marie-Tooth legata all'X, tipo 3","synonyms":["CMT3X","CMTX3"],"definition":"La malattia di Charcot-Marie-Tooth legata all'X tipo 3 è una neuropatia sensitivo-motoria periferica rara, di origine genetica, a trasmissione recessiva legata all'X. La malattia esordisce nell'infanzia o nell'adolescenza con debolezza e atrofia dei muscoli distali (inizialmente agli arti inferiori e successivamente anche a quelli superiori), perdita sensoriale distale globale alle estremità superiori e inferiori, piede cavo e assenza o riduzione dei riflessi tendinei distali. Spesso i segni sensoriali d'esordio sono il dolore e la parestesia. Sono stati descritti casi di paraparesi spastica (fenomeno del coltello a serramanico, riflessi tendinei profondi iperattivi e segno di Babinski)."},"nl":{"name":"X-gebonden ziekte van Charcot-Marie-Tooth type 3","synonyms":["CMT3X","CMTX3"],"definition":"Een zeldzame, genetische perifere sensomotorische neuropathie, gekenmerkt door een X-gebonden recessief overervingspatroon en aanvang in de kindertijd van progressieve, distale spierzwakte en -atrofie (aanvankelijk in de onderste ledematen, daarna worden de bovenste ledematen getroffen), alsook distaal, pan-sensorisch functieverlies in de bovenste en onderste ledematen, pes cavus, en afwezige of gereduceerde distale peesreflexen. Vaak zijn pijn en paresthesie de initiële sensorische symptomen."},"pt":{"name":"Doença de Charcot-Marie-Tooth ligada ao X tipo 3","definition":"Neuropatia sensorimotora periférica genética rara caracterizada por um padrão de hereditariedade recessiva ligada ao X e início na infância de fraqueza muscular distal progressiva e atrofia (começando nas extremidades inferiores e afetando as extremidades superiores), bem como perda pansensorial distal nas extremidades superiores e inferiores, pes cavus e reflexos tendinosos distais ausentes ou reduzidos. Dor e parestesia são frequentemente os sintomas sensoriais iniciais."},"pl":{"name":"Choroba Charcota, Mariego i Tootha typu 3 sprzężona z chromosomem X","synonyms":["CMT3X","CMTX3"],"definition":"Rzadka, genetycznie uwarunkowana obwodowa neuropatia czuciowo-ruchowa o dziedziczeniu recesywnym sprzężonym z chromosomem X, charakteryzująca się postępującym osłabieniem i zanikiem mięśni dystalnych o początku w wieku dziecięcym, które rozpoczyna się w kończynach dolnych, a następnie obejmuje kończyny górne. Towarzyszą globalne zaburzenia czuciowe w dystalnych odcinkach kończyn górnych i dolnych, stopa wydrążona raz brak / osłabienie odruchów ścięgnistych dystalnie. Początkowe objawy czuciowe to często ból i parestezje."},"cs":{"name":"X-vázaná Charcotova-Marieova-Toothova nemoc, typ 3","synonyms":["CMT3X","CMTX3","X-vázaná Charcot-Marie-Toothova nemoc, typ 3"]},"uk":{"name":"Х-зчеплена хвороба Шарко-Марі-Тута, тип 3","synonyms":["CMT3X","CMTX3"],"definition":"A rare genetic peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the childhood onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pansensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms."},"zh":{"name":"X连锁遗传夏科-马里-图斯病3型","synonyms":["CMT3"],"definition":"X连锁Charcot-Marie-Tooth病3型是一种罕见的遗传性外周感觉运动性神经病，其特征是X连锁隐性遗传，青春期起病，表现为进行性远端肌肉无力和萎缩(开始于下肢，然后累及上肢)，以及上肢和下肢的远端全感觉丧失，高弓足，以及远端肌腱反射缺失或减少。最初的感觉症状通常是疼痛和感觉异常。痉挛性瘫痪(表现为折刀征、深肌腱反射亢进和巴宾斯基征)也有报道。"},"tr":{"name":"X'e bağlı Charcot-Marie-Tooth hastalığı tip 3","synonyms":["CMT3X","CMTX3"]}},"xrefs":[{"source":"OMIM","code":"302802","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"921829497"},{"source":"MONDO","code":"0010551","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535303","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1844865","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":64747,"name":"X-linked Charcot-Marie-Tooth disease","classifications":[147,156,181,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"18458969[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_18458969[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-03-05","source":"26385972[PMID]_29626178[PMID]","terms":[{"hpo":"HP:0001760","label":"Abnormal foot morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003431","label":"Decreased motor nerve conduction velocity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031936","label":"Delayed ability to walk","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003693","label":"Distal amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008944","label":"Distal lower limb amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008110","label":"Equinovarus deformity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009027","label":"Foot dorsiflexor weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030237","label":"Hand muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008954","label":"Intrinsic hand muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009063","label":"Progressive distal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007141","label":"Sensorimotor neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003474","label":"Somatic sensory dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007108","label":"Demyelinating peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007149","label":"Distal upper limb amyotrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003477","label":"Peripheral axonal neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008081","label":"Pes valgus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008994","label":"Proximal muscle weakness in lower limbs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002091","label":"Restrictive ventilatory defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null}]}}