{"orpha":352675,"name":"X-linked Charcot-Marie-Tooth disease type 6","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMT6X","CMTX6"],"definition":"A type of rare X-linked Charcot-Marie-Tooth disease characterized by slowly progressive, principally axonal, peripheral sensorimotor neuropathy. Patients present with distal muscle weakness and atrophy of the lower extremities, as well as distal, panmodal sensory abnormalities, bilateral foot deformities (pes cavus and clawed toes), absent ankle reflexes, gait abnormalities (steppage gait, decreased hand grip strength and dexterity with variable severity. Males are typically more severely affected than carrier females (some reported to remain asymptomatic) and usually present with an earlier age of onset (within the first 13&nbsp;years of life).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-352675/","orphanet_url":"https://www.orpha.net/en/disease/detail/352675","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth liée à l'X type 6","synonyms":["CMT6X","CMTX6"],"definition":"Forme rare de la maladie de Charcot-Marie-Tooth liée à l'X, caractérisée par une neuropathie sensorimotrice périphérique d'évolution lente, principalement axonale. Les patients présentent une faiblesse et une atrophie distales des membres inférieurs, ainsi que des anomalies multisensorielles distales, des déformations bilatérales des pieds (pied creux et orteils en griffe), une aréflexie affectant la cheville, une marche anormale (de type steppage), une diminution de la force de préhension et de la dextérité des mains, de gravité variable. Les hommes sont généralement plus gravement touchés que les femmes porteuses (dont certaines resteraient asymptomatiques) et connaissent généralement un début plus précoce de la maladie (au cours des 13 premières années de vie)."},"de":{"name":"Charcot-Marie-Tooth-Krankheit, X-chromosomale, Typ 6","definition":"Eine seltene periphere sensomotorische Neuropathie, die durch eine hauptsächlich axonale periphere sensomotorische Neuropathie gekennzeichnet ist und im Kindes- und Jugendalter zu einer langsam fortschreitenden, mäßigen bis schweren distalen Muskelschwäche und Atrophie der unteren Extremitäten sowie zu distalen, panmodalen sensorischen Anomalien, bilateralen Fehlbildungen der Füße (Pes cavus, Krallenzehen), fehlenden Knöchelreflexen und Ganganomalien (Steppergang) führt. Die Störung ist genetisch bedingt und wird X-chromosomal-dominant vererbt. Frauen sind in der Regel asymptomatisch oder zeigen nur leichte Manifestationen (leichter posturaler Handtremor, leichter Schwund der intrinsischen Muskeln der Hand)."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth ligada al cromosoma X tipo 6","synonyms":["CMT6X","CMTX6"],"definition":"Es un tipo de enfermedad de Charcot-Marie-Tooth poco frecuente ligada al cromosoma X caracterizada por una neuropatía sensitivomotora periférica, principalmente axonal y de progresión lenta. Los pacientes presentan debilidad muscular distal y atrofia de las extremidades inferiores, así como anomalías sensitivas panmodales distales, deformidades bilaterales del pie (pie cavo y dedos en garra), ausencia de reflejos del tobillo, anomalías de la marcha (marcha en estepaje), disminución de la fuerza de agarre y de la destreza manual con gravedad variable. Los varones suelen verse más gravemente afectados que las mujeres portadoras (algunas permanecen asintomáticas) y generalmente presentan una edad de inicio más temprana (dentro de los primeros 13 años de vida)."},"it":{"name":"Malattia di Charcot-Marie-Tooth legata all'X, tipo 6","synonyms":["CMT6X","CMTX6"],"definition":"La malattia di Charcot-Marie-Tooth legata all'X tipo 6 è una neuropatia sensitivo-motoria periferica rara, per lo più assonale, di origine genetica, a trasmissione dominante legata all'X. La malattia esordisce durante l'infanzia con debolezza e atrofia moderata-grave dei muscoli distali degli arti inferiori, anomalie sensoriali distali generalizzate, deformità dei piedi (piede cavo, dita dei piedi ad artiglio), assenza dei riflessi della caviglia e anomalie della deambulazione (andatura a base allargata). Di solito le femmine sono asintomatiche e presentano segni clinici lievi (tremore posturale lieve della mano, lieve atrofia dei muscoli intrinseci della mano)."},"nl":{"name":"X-gebonden ziekte van Charcot-Marie-Tooth type 6","synonyms":["CMT6X","CMTX6"],"definition":"Een type van zeldzame X-gebonden ziekte van Charcot-Marie-Tooth, gekenmerkt door traag progressieve, hoofdzakelijk axonale, perifere sensorimotorische neuropathie. Patiënten presenteren zich met zwakte en atrofie van distale spieren van de onderste ledematen, alsook distale, panmodale sensorische afwijkingen, bilaterale voetmisvormingen (pes cavus en klauwtenen), afwezige enkelreflexen, gangafwijkingen (hanentred, verminderde knijpkracht en fijne motoriek met variabele ernst). Mannen worden doorgaans ernstiger getroffen dan vrouwelijke dragers (sommigen blijven asymptomatisch) en vertonen meestal een vroegere aanvangsleeftijd (binnen de eerste 13 levensjaren)."},"pt":{"name":"Doença de Charcot-Marie-Tooth ligada ao X tipo 6","definition":"Neuropatia sensorimotora periférica genética rara caracterizada principalmente por neuropatia sensorimotora periférica axonal com um padrão de hereditariedade dominante ligado ao X e o início na infância-adolescência de fraqueza muscular distal, moderada a grave, lentamente progressiva e atrofia das extremidades inferiores, bem como anomalias sensoriais distais panmodais, deformidades bilaterais nos pés (pé cavo, dedos em garra), ausência de reflexos no tornozelo e anormalidades na marcha (marcha em passo). Individuos femininos geralmente são assintomáticas ou apresentam apenas manifestações leves (tremor postural leve nas mãos, atrofia leve dos músculos intrínsecos das mãos)."},"pl":{"name":"Choroba Charcota, Mariego i Tootha typu 6 sprzężona z chromosomem X","synonyms":["CMT6X","CMTX6"],"definition":"Rzadka, genetycznie uwarunkowana obwodowa neuropatia czuciowo-ruchowa o dziedziczeniu dominującym sprzężonym z chromosomem X. Charakteryzuje się głównie aksonalną, obwodową neuropatią czuciowo-ruchową o początku w okresie dzieciństwa lub dojrzewania, z powoli postępującym, umiarkowanym lub ciężkim osłabieniem i zanikiem dystalnych mięśni kończyn dolnych, a także globalnymi zaburzeniami czucia, obustronną deformacją stóp (stopa wydrążona, palce młotkowate), brakiem odruchów skokowych i nieprawidłowości chodu (chód bociani). U kobiet przebieg choroby jest bezobjawowy lub występują jedynie łagodne objawy (niewielkie drżenie rąk, łagodne zaniki wewnętrznych mięśni dłoni)."},"cs":{"name":"X-vázaná Charcotova-Marieho-Toothova nemoc, typ 6","synonyms":["CMT6X","CMTX6","X-vázaná Charcot-Marie-Toothova nemoc, typ 6"]},"uk":{"name":"Х-зчеплена хвороба Шарко-Марі-Тута, тип 6","synonyms":["CMT6X","CMTX6"],"definition":"A rare genetic peripheral sensorimotor neuropathy characterized by principally axonal, peripheral sensorimotor neuropathy with an X-linked dominant inheritance pattern and the childhood-adolescence-onset of slowly progressive, moderate to severe, distal muscle weakness and atrophy of the lower extremities, as well as distal, panmodal sensory abnormalities, bilateral foot deformities (pes cavus, clawed toes), absent ankle reflexes and gait abnormalities (steppage gait). Females are usually asymptomatic or only present mild manifestations (mild postural hand tremor, mild wasting of hand intrinsic muscles)."},"zh":{"name":"X连锁夏科-马里-图斯病6型","synonyms":["CMTX6"],"definition":"X-连锁夏科-马里-图斯病6型是一种罕见的遗传性外周轴索感觉运动性神经病，以X连锁显性遗传模式为特征。其特征为儿童期起病，表现为缓慢进展、中至重度的下肢远端肌肉无力和萎缩，以及远端的全神型感觉异常、双侧足畸形(足底凹陷、爪趾)、踝关节反射缺失和步态异常(踏步步态)。女性通常无症状或仅有轻微症状(轻度手部姿势震颤，手部内在肌轻度萎缩)。"},"tr":{"name":"X'e bağlı Charcot-Marie-Tooth hastalığı tip 6","synonyms":["CMT6X","CMTX6"]}},"xrefs":[{"source":"OMIM","code":"300905","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010479","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3806702","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":[{"symbol":"PDK3","name":"pyruvate dehydrogenase kinase 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"23297365[PMID]","hgnc":"8811","ensembl":"ENSG00000067992","omim":"300906","loci":["Xp22.11"]}],"genes_via_subtypes":[],"inheritance":["X-linked dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"23297365[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23297365[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-10-01","source":"26801680[PMID]_23297365[PMID]","terms":[{"hpo":"HP:0003438","label":"Absent Achilles reflex","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000762","label":"Decreased nerve conduction velocity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008944","label":"Distal lower limb amyotrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002936","label":"Distal sensory impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003482","label":"EMG: axonal abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002378","label":"Hand tremor","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007141","label":"Sensorimotor neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002166","label":"Impaired vibration sensation in the lower limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003376","label":"Steppage gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003393","label":"Thenar muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null}]}}