{"orpha":435998,"name":"Autosomal recessive intermediate Charcot-Marie-Tooth disease type D","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["RI-CMT type D"],"definition":"Autosomal recessive intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by childhood onset of unsteady gait, pes cavus, frequent falls and foot dorsiflexor weakness slowly progressing to distal upper and lower limb muscle weakness and atrophy, distal sensory impairment and reduced tendon reflexes. Additional symptoms may include bilateral sensorineural hearing impairment and neuropathic pain.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-435998/","orphanet_url":"https://www.orpha.net/en/disease/detail/435998","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth intermédiaire autosomique récessive type D","synonyms":["RI-CMT type D"],"definition":"Neuropathie motrice et sensorielle héréditaire rare caractérisée par l'apparition, pendant l'enfance, d'une démarche instable, d'un pied creux, de chutes fréquentes et d'une faiblesse du dorsiflecteur du pied qui évolue lentement vers une faiblesse et une atrophie des muscles distaux des membres supérieurs et inférieurs, une déficience sensorielle distale et une diminution des réflexes tendineux. Les autres symptômes peuvent inclure une déficience auditive neurosensorielle bilatérale et des douleurs neuropathiques."},"de":{"name":"Charcot-Marie-Tooth-Krankheit, autosomal-rezessive, intermediäre, Typ D","synonyms":["RI-CMT Typ D"],"definition":"Die autosomal-rezessive intermediäre Charcot-Marie-Tooth-Krankheit Typ D ist eine seltene erbliche motorische und sensorische Neuropathie. Sie zeichnet sich aus durch unsicheren Gang, Pes cavus, häufige Stürze und eine Fußheberschwäche im Kindesalter, die sich langsam zu einer distalen Muskelschwäche und -atrophie der oberen und unteren Gliedmaßen, distalen sensorischen Beeinträchtigungen und verminderten Sehnenreflexen entwickelt. Weitere Symptome können eine beidseitige sensorineurale Hörstörung und neuropathische Schmerzen sein."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth intermedia autosómica recesiva tipo D","synonyms":["CMT-IR tipo D"],"definition":"Es una neuropatía sensitivo-motora hereditaria poco frecuente caracterizada por el inicio en la infancia de marcha inestable, pie cavo, caídas frecuentes y debilidad en la dorsiflexión del pie que progresa lentamente a debilidad y atrofia muscular distal de las extremidades superiores e inferiores, alteración sensitiva distal y reducción de los reflejos tendinosos. Otros síntomas adicionales pueden incluir discapacidad auditiva neurosensorial bilateral y dolor neuropático."},"it":{"name":"Malattia di Charcot-Marie-Tooth autosomica recessiva intermedia tipo D","synonyms":["RI-CMT, tipo D"],"definition":"Si tratta di una neuropatia sensitivo-motoria ereditaria rara, che esordisce nell'infanzia con andatura instabile, piede cavo, cadute frequenti e debolezza dei muscoli dorsiflessori del piede, che progredisce lentamente verso la debolezza e l'atrofia dei muscoli distali degli arti superiori e inferiori, i deficit sensoriali distali e la riduzione dei riflessi tendinei. Altri segni clinici sono la sordità neurosensoriale bilaterale e il dolore neuropatico."},"nl":{"name":"Autosomaal recessieve intermediaire ziekte van Charcot-Marie-Tooth type D","synonyms":["RI-CMT type D"],"definition":"Een zeldzame hereditaire motorische en sensorische neuropathie, gekarakteriseerd door aanvang in de kindertijd van onvaste gang, pes cavus, frequent vallen, en zwakte van dorsaalflexoren van voet, met trage progressie naar zwakte en atrofie van distale spieren van bovenste en onderste ledematen, distale sensorische stoornis en verminderde peesreflexen. Mogelijke bijkomende symptomen zijn onder meer bilaterale sensorineurale slechthorendheid en neuropathische pijn."},"pt":{"name":"Doença de Charcot-Marie-Tooth intermédia autossómica recessiva tipo D"},"pl":{"name":"Autosomalna recesywna pośrednia choroba Charcota, Mariego i Tootha typu D","synonyms":["RI-CMT typu D"]},"cs":{"name":"Autozomálně recesivní intermediární Charcotova-Marieova-Toothova nemoc, typ D","synonyms":["RI-CMT typ D","Autozomálně recesivní intermediární Charcot-Marie-Toothova nemoc, typ D"]},"uk":{"name":"Аутосомно-рецесивна помірно виражена хвороба Шарко-Марі-Тута, тип D","synonyms":["RI-CMT тип D"],"definition":"Autosomal recessive intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by childhood onset of unsteady gait, pes cavus, frequent falls and foot dorsiflexor weakness slowly progressing to distal upper and lower limb muscle weakness and atrophy, distal sensory impairment and reduced tendon reflexes. Additional symptoms may include bilateral sensorineural hearing impairment and neuropathic pain."},"zh":{"name":"常染色体隐性遗传性中间性夏科-马里-图斯病D型","synonyms":["RI-CMT D型"],"definition":"常染色体隐性遗传性中间性夏科特-玛丽齿病D型是一种罕见的遗传性运动和感觉神经病，其特征是儿童期发作时步态不稳，高足弓，频繁跌倒和足背屈肌无力，缓慢发展为远端上、下肢肌无力和萎缩，远端感觉障碍和腱反射减少。其他症状可能包括双侧感觉神经性听力障碍和神经性疼痛。"},"tr":{"name":"Otozomal resesif geçişli Charcot-Marie-Tooth hastalığı tip D","synonyms":["RI-CMT tip D"]}},"xrefs":[{"source":"OMIM","code":"616039","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C20.2","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0014467","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5569027","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":268337,"name":"Autosomal recessive intermediate Charcot-Marie-Tooth disease","classifications":[156,181]},{"orpha":2443,"name":"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"COX6A1","name":"cytochrome c oxidase subunit 6A1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25152455[PMID]","hgnc":"2277","ensembl":"ENSG00000111775","omim":"602072","loci":["12q24.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"25152455[PMID]_26302975[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25152455[PMID]_26302975[PMID]"}],"phenotypes":null}