{"orpha":521411,"name":"Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive axonal CMT due to copper metabolism defect"],"definition":"A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by motor-predominant axonal polyneuropathy due to a defect in copper metabolism. Patients become symptomatic in infancy or childhood with subtle motor delay or regression, manifesting with progressive weakness, muscle wasting, and absent reflexes in the lower and upper extremities. In addition, vibratory sensation is mildly diminished. Involvement of the face with weakness and fasciculation of facial muscles has also been described.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-521411/","orphanet_url":"https://www.orpha.net/en/disease/detail/521411","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth axonale autosomique récessive due a un défaut du métabolisme du cuivre","definition":"Neuropathie sensitivo-motrice axonale héréditaire autosomique récessive rare caractérisée par une polyneuropathie axonale à prédominance motrice due à un défaut du métabolisme du cuivre. Les patients sont symptomatiques dans la petite enfance ou l'enfance avec un retard moteur subtil ou une régression, se manifestant par une faiblesse progressive, une fonte musculaire et une absence de réflexes dans les membres inférieures et supérieures. La sensation vibratoire est légèrement diminuée. Une atteinte du visage avec une faiblesse et fasciculation des muscles faciaux a également été décrite."},"de":{"name":"Autosomal-rezessive axonale Charcot-Marie-Tooth-Krankheit durch Defekt im Kupfermetabolismus","definition":"Eine autosomal-rezessive hereditäre motorisch-sensorische axonale Neuropathie, die durch eine motorisch-prädominante axonale Polyneuropathie aufgrund eines Defekts im Kupferstoffwechsel gekennzeichnet ist. Die Patienten werden im Säuglings- oder Kindesalter symptomatisch mit einer subtilen motorischen Verzögerung oder Regression, die sich in fortschreitender Schwäche, Muskelschwund und fehlenden Reflexen in den unteren und oberen Extremitäten manifestiert. Darüber hinaus ist das Vibrationsempfinden leicht vermindert. Es wurde auch eine Beteiligung des Gesichts mit Schwäche und Faszikulation der Gesichtsmuskeln beschrieben."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth axonal autosómica recesiva por un defecto del metabolismo del cobre","definition":"Es una neuropatía axonal sensitivo-motora hereditaria autosómica recesiva poco frecuente. caracterizada por una polineuropatía axonal predominantemente motora debido a un defecto del metabolismo del cobre. Los pacientes se tornan sintomáticos en la lactancia o la infancia con regresión o retraso motor sutil, que se manifiestan como debilidad progresiva, atrofia muscular y ausencia de reflejos en las extremidades inferiores y superiores. Además, la sensibilidad vibratoria está levemente reducida. También se ha descrito afectación facial con debilidad y fasciculaciones musculares."},"it":{"name":"Malattia di Charcot-Marie-Tooth assonale autosomica recessiva da deficit del metabolismo del rame","definition":"Si tratta di una neuropatia sensitivo-motoria assonale ereditaria rara, a trasmissione autosomica recessiva, caratterizzata da polineuropatia assonale prevalentemente motoria, causata da un difetto del metabolismo del rame. La malattia esordisce nel periodo neonatale o nell'infanzia con un ritardo o una regressione motoria lieve, associata a debolezza progressiva, atrofia muscolare e assenza dei riflessi negli arti inferiori e superiori. Inoltre, il senso della vibrazione è lievemente ridotto. Può essere interessato anche il viso che mostra debolezza e fascicolazioni dei muscoli facciali."},"nl":{"name":"Autosomaal recessieve axonale ziekte van Charcot-Marie-Tooth door defect kopermetabolisme","definition":"Een zeldzame, autosomaal recessieve axonale hereditaire motorische en sensorische neuropathie, gekarakteriseerd door hoofdzakelijk motorische axonale polyneuropathie als gevolg van een defect van kopermetabolisme. Patiënten worden symptomatisch in de zuigelingentijd of kindertijd, met subtiele motorische achterstand of regressie, wat zich manifesteert met progressieve zwakte, spieratrofie, en afwezigheid van reflexen in onderste en bovenste ledematen. Daarbovenop is de vibratiezin mild verminderd. Betrokkenheid van aangezicht met zwakte en fasciculatie van gelaatsspieren werd ook reeds beschreven."},"pt":{"name":"Doença Charcot-Marie-Tooth axonal autossómica recessiva por defeito no metabolismo do cobre"},"pl":{"name":"Autosomalna, recesywna, aksonalna choroba Charcot-Marie-Tootha spowodowana upośledzeniem metabolizmu miedzi","synonyms":["Autosomal recessive axonal CMT due to copper metabolism defect"]},"cs":{"name":"Autozomálně recesivní primárně axonální Charcot-Marie-Toothova nemoc způsobená poruchou metabolismu mědi","synonyms":["Autosomal recessive axonal CMT due to copper metabolism defect"]},"uk":{"name":"Аутосомно-рецесивна аксональна хвороба Шарко-Марі-Тута, зумовлена дефектом метаболізму міді","synonyms":["Аутосомно-рецесивна аксональна CMT внаслідок дефекту метаболізму міді"],"definition":"A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by motor-predominant axonal polyneuropathy due to a defect in copper metabolism. Patients become symptomatic in infancy or childhood with subtle motor delay or regression, manifesting with progressive weakness, muscle wasting, and absent reflexes in the lower and upper extremities. In addition, vibratory sensation is mildly diminished. Involvement of the face with weakness and fasciculation of facial muscles has also been described."},"zh":{"name":"铜代谢缺陷所致常染色体隐性遗传轴索夏科-马里-图斯病","synonyms":["Autosomal recessive axonal CMT due to copper metabolism defect"],"definition":"一种罕见的常染色体隐性轴索遗传性运动和感觉神经病，其特点是铜代谢缺陷引起的以运动为主的轴索多发性神经病。患者在婴儿期或儿童期就出现症状，有细微的运动迟缓或退行，表现为下肢和上肢进行性无力、肌萎缩、反射消失。此外，振动感觉轻度减退。也有面部受累，表现为面部肌肉无力和肌束震颤。"},"tr":{"name":"Bakır metabolizma bozukluğuna bağlı otozomal resesif aksonal Charcot-Marie-Tooth hastalığı","synonyms":["Autosomal recessive axonal CMT due to copper metabolism defect"]}},"xrefs":[{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C20.1","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0033850","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5569051","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]},{"orpha":309839,"name":"Disorder of copper metabolism","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SCO2","name":"synthesis of cytochrome C oxidase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29351582[PMID]","hgnc":"10604","ensembl":"ENSG00000284194","omim":"604272","loci":["22q13.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"29351582[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_29351582[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-03-27","source":"29351582[PMID]","terms":[{"hpo":"HP:0010836","label":"Abnormality of copper homeostasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002312","label":"Clumsiness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003444","label":"EMG: chronic denervation signs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000577","label":"Exotropia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001349","label":"Facial diplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002380","label":"Fasciculations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009027","label":"Foot dorsiflexor weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002359","label":"Frequent falls","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009055","label":"Generalized limb muscle atrophy","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:0002151","label":"Increased circulating lactate concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007178","label":"Motor polyneuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003376","label":"Steppage gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040081","label":"Abnormal circulating creatine kinase concentration","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Excluded (0%)","criteria":null}]}}