{"orpha":658778,"name":"COQ7-related distal hereditary motor neuropathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare autosomal recessive distal hereditary motor neuropathy characterized by severe, slowly progressive, symmetric distal muscle weakness and atrophy of the limbs predominantly due to length-dependent peripheral motor neuropathy. Both the lower and upper limbs are affected, with a lower-limb predominance at onset. Patients present with walking difficulties and frequent falls. Pes cavus may also be present. Sensory abnormalities are usually absent, or mild when present.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-658778/","orphanet_url":"https://www.orpha.net/en/disease/detail/658778","names":{"fr":{"name":"Neuropathie motrice distale héréditaire associée à COQ7","definition":"Neuropathie motrice distale héréditaire autosomique récessive rare, caractérisée par une faiblesse et une atrophie sévères, à progression lente et symétrique, des muscles distaux des membres, principalement due à une neuropathie motrice périphérique longueur dépendante. Elle touche aussi bien les membres inférieurs que les membres supérieurs, même si les membres inférieurs sont davantage concernés au moment de l'apparition de la maladie. Les patients connaissent des difficultés à marcher et des chutes fréquentes. Un pied creux peut également être associé. Les troubles sensoriels sont généralement absents ou légers lorsqu'ils sont présents."},"de":{"name":"Neuropathie, distale hereditäre motorische, COQ7-assoziierte"},"es":{"name":"Neuropatía motora distal hereditaria asociada a COQ7","definition":"Es una neuropatía motora distal hereditaria autosómica recesiva poco frecuente caracterizada por debilidad muscular distal grave, de progresión lenta y simétrica, y atrofia de las extremidades, principalmente debido a una neuropatía motora periférica dependiente de la longitud. Afecta tanto a las extremidades inferiores como a las superiores, aunque con predominio de las inferiores al inicio. Los pacientes presentan dificultades para deambular, experimentando caídas frecuentes. También puede asociar pie cavo. Las alteraciones sensitivas suelen estar ausentes o ser leves cuando están presentes."},"it":{"name":"Neuropatia motoria distale ereditaria correlata a COQ7"},"nl":{"name":"COQ7-gerelateerde distale hereditaire motorische neuropathie","definition":"Een zeldzame autosomaal recessieve distale hereditaire motorische neuropathie, gekenmerkt door ernstige, traag progressieve, symmetrische zwakte en atrofie van distale spieren van de ledematen, vooral door lengte-afhankelijke perifere motorische neuropathie. Zowel onderste als bovenste ledematen worden aangetast, met een overwicht van de onderste ledematen bij aanvang. Patiënten presenteren zich met loopproblemen en frequent vallen. Pes cavus (holvoet) kan ook aanwezig zijn. Sensorische afwijkingen zijn meestal afwezig, of mild indien wel aanwezig."},"pt":{"name":"Neuropatia motora distal hereditária COQ7-relacionada"},"pl":{"name":"Dystalna dziedziczna neuropatia ruchowa związana z COQ7"},"cs":{"name":"Distální hereditární motorická neuropatie související s COQ7"},"uk":{"name":"COQ7-залежна дистальна спадкова моторна нейропатія"}},"xrefs":[{"source":"OMIM","code":"620402","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G12.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.2Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0958129","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"958129","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925143","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":140468,"name":"Autosomal recessive distal hereditary motor neuropathy","classifications":[156,181]},{"orpha":35656,"name":"Coenzyme Q10 deficiency","classifications":[150,156,181]}],"children":[],"genes":[{"symbol":"COQ7","name":"coenzyme Q7, hydroxylase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"37077559[PMID]","hgnc":"2244","ensembl":"ENSG00000167186","omim":"601683","loci":["16p12.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":12.0,"area":"Worldwide","status":"Validated","source":"36454683[PMID]_37077559[PMID]_36758993[PMID]_37392700[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"36454683[PMID]_37077559[PMID]_36758993[PMID]_37392700[PMID]_ORPHANET"}],"phenotypes":null}