{"orpha":391351,"name":"SURF1-related Charcot-Marie-Tooth disease type 4","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMT4K","Charcot-Marie-Tooth disease type 4K","SURF1-related CMT4","SURF1-related severe demyelinating Charcot-Marie-Tooth disease"],"definition":"A form of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, areflexia, severely reduced motor nerve conduction velocities (25&nbsp;m/s or less), and lactic acidosis with mitochondrial complex&nbsp;IV deficiency. Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-391351/","orphanet_url":"https://www.orpha.net/en/disease/detail/391351","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth type 4 associée à SURF1","synonyms":["CMT4 associée à SURF1","CMT4K","Maladie de Charcot-Marie-Tooth démyélinisante sévère associée à SURF1","Maladie de Charcot-Marie-Tooth type 4K"],"definition":"Forme de la maladie de Charcot-Marie-Tooth type 4 caractérisée par la survenue pendant l'enfance d'une neuropathie sensitivo-motrice démyélinisante progressive et sévère, se manifestant par une faiblesse et une atrophie musculaires distales des mains et des pieds, une atteinte sensorielle distale des membres inférieurs (sensibilité aux vibrations et aux piqûres), une aréflexie, un ralentissement sévère des vitesses de conduction des nerfs moteurs (25&nbsp;m/sec ou moins) et une acidose lactique associée à un déficit en complexe IV mitochondrial. Les patients présentent aussi une cyphoscoliose, un nystagmus, une perte auditive, une ataxie cérébelleuse et/ou des anomalies cérébrales à l'IRM (lésions putaminales et périaqueducales)."},"de":{"name":"SURF1-abhängige Charcot-Marie-Tooth-Krankheit Typ 4","synonyms":["CMT4K","Charcot-Marie-Tooth-Krankheit Typ 4K","SURF1-abhängige CMT4","SURF1-bedingte schwere demyelinisierende Charcot-Marie-Tooth-Krankheit"],"definition":"Ein Subtyp der Charcot-Marie-Tooth-Krankheit Typ 4, der durch den Beginn einer schweren, progressiven, demyelinisierenden sensomotorischen Neuropathie im Kindesalter gekennzeichnet ist. Die Krankheit manifestiert sich durch distale Muskelschwäche und Atrophie der Hände und Füße, distale sensorische Beeinträchtigung (Vibration und Nadelreiz) der unteren Gliedmaßen, Laktatazidose, Areflexie und stark reduzierte motorische Nervenleitgeschwindigkeiten (25 m/s oder weniger). Die Patienten können auch Kyphoskoliose, Nystagmus, Hörverlust, zerebelläre Ataxie und/oder MRT-Anomalien des Gehirns (putaminale und periaquäduktale Läsionen) aufweisen."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth tipo 4 asociada a SURF1","synonyms":["CMT4 asociada a SURF1","CMT4K","Enfermedad de Charcot-Marie-Tooth desmielinizante grave asociada a SURF1","Enfermedad de Charcot-Marie-Tooth tipo 4K"],"definition":"Es un subtipo de la enfermedad de Charcot-Marie-Tooth tipo 4 caracterizada por el inicio en la infancia de neuropatía sensitivo-motora desmielinizante grave y progresiva que se manifiesta con debilidad muscular distal y atrofia de manos y pies, deterioro sensorial distal (vibración y pinchazo) de miembros inferiores, acidosis láctica, arreflexia y velocidades de conducción nerviosa motora gravemente reducidas (25 m/s o inferiores). Los afectados también pueden presentar cifoescoliosis, nistagmo, pérdida de audición, ataxia cerebelosa y/o anomalías en la resonancia magnética cerebral (lesiones putaminales y periacueductales)."},"it":{"name":"Malattia di Charcot-Marie-Tooth SURF1-correlata, tipo 4","synonyms":["CMT4 SURF1-correlata","CMT4K","Malattia di Charcot-Marie-Tooth demielinizzante grave SURF1-correlata","Malattia di Charcot-Marie-Tooth, tipo 4K"],"definition":"La malattia di Charcot-Marie-Tooth tipo 4 correlata al gene SURF1 è un sottotipo della malattia di Charcot-Marie-Tooth tipo 4. È caratterizzata da neuropatia sensitivo-motoria demielinizzante progressiva grave, che esordisce nell'infanzia con debolezza e atrofia dei muscoli distali delle mani e dei piedi, deficit sensoriali distali (vibrazione e puntura di spillo) degli arti inferiori, acidosi lattica, areflessia e grave riduzione della velocità di conduzione dei nervi (25 m/s o meno). Possono associarsi cifoscoliosi, nistagmo, sordità, atassia cerebellare e/o anomalie cerebrali evidenti alla RMN (lesioni del putamen e periacqueduttali)."},"nl":{"name":"SURF1-gerelateerde ziekte van Charcot-Marie-Tooth type 4","synonyms":["CMT4K","SURF1-gerelateerde CMT4","SURF1-gerelateerde ernstige demyeliniserende ziekte van Charcot-Marie-Tooth","Ziekte van Charcot-Marie-Tooth type 4K"],"definition":"Een subtype van ziekte van Charcot-Marie-Tooth type 4, gekarakteriseerd door aanvang in de kindertijd van ernstige, progressieve, demyeliniserende sensomotorische neuropathie die zich manifesteert met distale spierzwakte en -atrofie van handen en voeten, distale sensorische stoornis (trillingen en speldenprik) van onderste ledematen, lactaatacidose, areflexie en ernstig verminderde motorische zenuwgeleidingssnelheden (25 m/s of minder). Patiënten vertonen mogelijk ook kyfoscoliose, nystagmus, gehoorverlies, cerebellaire ataxie en/of afwijkingen van de hersenen bij MRI (putaminale en periaqueductale laesies)."},"pt":{"name":"Doença de Charcot-Marie-Tooth tipo 4 SURF1-relacionada"},"pl":{"name":"Choroba Charcota, Mariego i Tootha typu 4 związana z SURF1","synonyms":["Choroba Charcota, Mariego i Tootha typu 4K","Ciężka demielinizacyjna choroba Charcota, Mariego i Tootha związana z SURF1","CMT4 związana z SURF1","CMT4K"]},"cs":{"name":"SURF1-vázaná Charcotova-Marieova-Toothova nemoc, typ 4","synonyms":["CMT4K","Charcotova-Marieova-Toothova nemoc, typ 4K","SURF1-vázaná CMT4","SURF1-vázaná těžká demyelinizační Charcotova-Marieova-Toothova nemoc","SURF1-vázaná Charcot-Marie-Toothova nemoc, typ 4","Charcot-Marie-Toothova nemoc, typ 4K","SURF1-vázaná těžká demyelinizační Charcot-Marie-Toothova nemoc"]},"uk":{"name":"Хвороба Шарко-Марі-Тута, тип 4, повязана з SURF1","synonyms":["Хвороба Шарко-Марі-Тута, тип 4К","CMT4K","CMT4, повязаний з SURF1","Тяжка демієлінізуюча хвороба Шарко-Марі-Тута, повязана з SURF1"],"definition":"A subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions)."},"zh":{"name":"SURF1基因相关夏科-马里-图斯病4型","synonyms":["SURF1基因相关严重脱髓鞘夏科-马里-图斯病"],"definition":"本病是夏科-玛丽-图斯病4型的一种亚型，其特征是儿童时期起病，表现为严重的进行性脱髓鞘的感觉运动神经病，表现为手脚远端肌无力和萎缩、下肢远端感觉障碍(振动和针刺)、乳酸酸中毒、反射障碍和运动神经传导速度严重减慢(25米/秒或以下)。患者还可能出现脊柱后凸、眼球震颤、听力丧失、小脑性共济失调和/或脑MRI异常(壳核和导水管周围病变)。"},"tr":{"name":"SURF1-ilişkili Charcot-Marie-Tooth hastalığı tip 4","synonyms":["CMT4K","SURF1-ilişkili CMT4","Charcot-Marie-Tooth hastalığı tip 4K","SURF-ilişkili ağır demiyelinizan Charcot-Marie-Tooth hastalığı"]}},"xrefs":[{"source":"OMIM","code":"616684","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C20.0","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0014733","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4225246","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":64749,"name":"Charcot-Marie-Tooth disease type 4","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":"SURF1","name":"SURF1 cytochrome c oxidase assembly factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24027061[PMID]","hgnc":"11474","ensembl":"ENSG00000148290","omim":"185620","loci":["9q34.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"24027061[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}