{"orpha":64749,"name":"Charcot-Marie-Tooth disease type 4","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["AR-CMT1","Autosomal recessive demyelinating Charcot-Marie-Tooth","CMT4"],"definition":"A group of autosomal recessive demyelinating Charcot-Marie-Tooth disease (CMT) characterized by progressive, distally accentuated weakness and atrophy of muscles innervated by the peroneal nerve in the lower limbs, followed by weakness and atrophy of hands, sensory loss, and characteristic foot abnormalities. CMT4 is usually more severe than other forms of CMT, and the onset occurs earlier.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-64749/","orphanet_url":"https://www.orpha.net/en/disease/detail/64749","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth type 4","synonyms":["AR-CMT1","CMT4","Maladie de Charcot-Marie-Tooth démyélinisante autosomique récessive"],"definition":"Groupe de maladies de Charcot-Marie-Tooth (CMT) démyélinisantes autosomiques récessives caractérisées par une faiblesse progressive et accentuée distalement et une atrophie des muscles innervés par le nerf péronier au niveau des membres inférieurs, suivie d'une faiblesse et d'une atrophie des mains, d'une perte sensorielle, et d'anomalies caractéristiques du pied. La CMT4 est généralement plus sévère que les autres formes de CMT, et son apparition est plus précoce."},"de":{"name":"Charcot-Marie-Tooth-Krankheit Typ 4","synonyms":["AR-CMT1","CMT4","Charcot-Marie-Tooth, demyeliniserend, autosomal-rezessiv"],"definition":"Eine seltene Neuropathie aus der Gruppe der autosomal-rezessiven demyelinisierenden Charcot-Marie-Tooth-Krankheiten (CMT), die sich durch eine fortschreitende, distal akzentuierte Schwäche und Atrophie der vom Nervus peroneus innervierten Muskeln in den unteren Extremitäten auszeichnet. Weitere Merkmale sind Schwäche und Atrophie der Hände sowie Sensibilitätsverlust und charakteristische Fußanomalien. CMT4 verläuft in der Regel schwerwiegender als andere Formen von CMT und setzt früher ein."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth tipo 4","definition":"Es un grupo de enfermedades de Charcot-Marie-Tooth (CMT) desmielinizantes autosómicas recesivas. Está caracterizado por debilidad y atrofia progresivas y distales de los músculos inervados por el nervio peroneo en las extremidades inferiores, seguidas de debilidad y atrofia en las manos, pérdida sensitiva y anomalías características de los pies. La enfermedad de CMT4 suele ser más grave que otras formas de CMT y su inicio es más precoz."},"it":{"name":"Malattia di Charcot-Marie-Tooth, tipo 4","synonyms":["AR-CMT1","CMT4","Malattia di Charcot-Marie-Tooth demielinizzante, autosomica recessiva"]},"nl":{"name":"Ziekte van Charcot-Marie-Tooth type 4","synonyms":["AR-CMT1","Autosomaal recessieve demyeliniserende ziekte van Charcot-Marie-Tooth","CMT4"],"definition":"Een groep van vormen van autosomaal recessieve demyeliniserende ziekte van Charcot-Marie-Tooth (CMT), gekenmerkt door progressieve, overwegend distale zwakte en atrofie van spieren geïnnerveerd door nervus peroneus in de onderste ledematen, gevolgd door zwakte en atrofie van de handen, zintuiglijk verlies, en kenmerkende voetafwijkingen. CMT4 is meestal ernstiger en treedt vroeger op dan de andere vormen van CMT."},"pt":{"name":"Doença de Charcot-Marie-Tooth tipo 4","synonyms":["CMT4"],"definition":"A doença de Charcot-Marie-Tooth tipo 4 (CMT4) pertence ao grupo geneticamente heterogéneo de polineuropatias sensitivo-motoras periféricas CMT."},"pl":{"name":"Choroba Charcot, Marie i Tooth typu 4","synonyms":["AR-CMT1","Autosomalna recesywna demielinizująca choroba Charcot, Marie i Tooth","CMT4"]},"cs":{"name":"Charcotova-Marieova-Toothova nemoc, typ 4","synonyms":["AR-CMT1","CMT4","Autozomálně recesivní demyelinizační Charcotova-Marieova-Toothova nemoc","Charcot-Marie-Toothova nemoc, typ 4","Autozomálně recesivní demyelinizační Charcot-Marie-Toothova nemoc"]},"uk":{"name":"Хвороба Шарко-Марі-Тута, тип 4","synonyms":["AR-CMT1","Аутосомно-рецесивна демієлінізуюча хвороба Шарко-Марі-Тута","CMT4"],"definition":"A disorder that belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases."},"zh":{"name":"腓骨肌萎缩症4型","synonyms":["常染色体隐性遗传性脱髓鞘Charcot-Marie-Tooth病"]},"tr":{"name":"Charcot-Marie-Tooth hastalığı tip 4","synonyms":["CMT4","AR-CMT1","Otozomal Çekinik demiyelinizan Charcot-Marie-Tooth"]}},"xrefs":[{"source":"ICD-11","code":"8C20.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"220263794"},{"source":"MONDO","code":"0018995","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"18995","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4082197","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12440","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":140459,"name":"Autosomal recessive hereditary demyelinating motor and sensory neuropathy","classifications":[156,181]}],"children":[{"orpha":99948,"name":"Charcot-Marie-Tooth disease type 4A","type":"Disease"},{"orpha":99955,"name":"Charcot-Marie-Tooth disease type 4B1","type":"Disease"},{"orpha":99956,"name":"Charcot-Marie-Tooth disease type 4B2","type":"Disease"},{"orpha":363981,"name":"Charcot-Marie-Tooth disease type 4B3","type":"Disease"},{"orpha":99949,"name":"Charcot-Marie-Tooth disease type 4C","type":"Disease"},{"orpha":99950,"name":"Charcot-Marie-Tooth disease type 4D","type":"Disease"},{"orpha":99951,"name":"Charcot-Marie-Tooth disease type 4E","type":"Disease"},{"orpha":99952,"name":"Charcot-Marie-Tooth disease type 4F","type":"Disease"},{"orpha":99953,"name":"Charcot-Marie-Tooth disease type 4G","type":"Disease"},{"orpha":99954,"name":"Charcot-Marie-Tooth disease type 4H","type":"Disease"},{"orpha":139515,"name":"Charcot-Marie-Tooth disease type 4J","type":"Disease"},{"orpha":391351,"name":"SURF1-related Charcot-Marie-Tooth disease type 4","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"}],"phenotypes":null}