{"orpha":3115,"name":"Roussy-Lévy syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hereditary areflexic dystasia, Roussy-Lévy type"],"definition":"A rare demyelinating hereditary motor and sensory neuropathy characterized by prominent gait ataxia, pes cavus, tendon areflexia, distal limb weakness, tremor in the upper limbs, distal sensory loss, kyphoscoliosis, and progressive muscle atrophy. The disease becomes symptomatic in infancy or childhood, mode of inheritance is autosomal dominant.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3115/","orphanet_url":"https://www.orpha.net/en/disease/detail/3115","names":{"fr":{"name":"Syndrome de Roussy-Lévy","definition":"Neuropathie sensitivo-motrice démyélinisante héréditaire rare, caractérisée par une démarche ataxique prononcée, des pieds creux, une aréflexie tendineuse, une faiblesse des membres distaux, un tremblement des membres supérieurs, un déficit sensitif distal, une cyphoscoliose et une atrophie musculaire progressive. La maladie se transmet sur le mode autosomique dominant et devient symptomatique dans la petite enfance ou l'enfance."},"de":{"name":"Roussy-Lévy-Syndrom","synonyms":["Areflektorischen Dystasie, hereditäre, Typ Roussy-Levy"],"definition":"Eine seltene demyelinisierende hereditäre motorische und sensorische Neuropathie, die durch eine ausgeprägte Gangataxie, Pes cavus, Sehnenareflexie, Schwäche der distalen Gliedmaßen, Tremor der oberen Gliedmaßen, distalen sensorischen Verlust, Kyphoskoliose und fortschreitenden Muskelschwund gekennzeichnet ist. Die Krankheit wird im Säuglings- oder Kindesalter symptomatisch, der Vererbungsmodus ist autosomal-dominant."},"es":{"name":"Síndrome de Roussy-Lévy","synonyms":["Distasia arrefléxica hereditaria, tipo Roussy-Lévy"],"definition":"Es una neuropatía hereditaria sensitivo-motora desmielinizante poco frecuente caracterizada por una marcha atáxica prominente, pies cavos, arreflexia tendinosa, debilidad distal de las extremidades, temblor en las extremidades superiores, déficit sensitivo distal, cifoescoliosis y atrofia muscular progresiva. La enfermedad se inicia en la lactancia o en la infancia y el modo de herencia es autosómico dominante."},"it":{"name":"Sindrome di Roussy-Lévy","synonyms":["Distasia areflessica ereditaria, tipo Roussy-Lévy"],"definition":"Si tratta di une neuropatia motoria e sensoriale demielinizzante ereditaria rara, caratterizzata da una spiccata andatura atassica, piede cavo, areflessia tendinea, debolezza della porzione distale degli arti, tremori negli arti superiori, perdita sensoriale distale, cifoscoliosi e atrofia muscolare progressiva. La malattia esordisce nella prima infanzia o nell'infanzia. La trasmissione è autosomica dominante."},"nl":{"name":"Syndroom van Roussy-Lévy","synonyms":["Erfelijke areflexische dystasie, Roussy-Lévy-type"],"definition":"Een zeldzame, demyeliniserende hereditaire motorische en sensorische neuropathie, gekarakteriseerd door prominente gangataxie, pes cavus (holvoet), peesareflexie, zwakte van distale ledematen, tremor in bovenste ledematen, distaal zintuiglijk verlies, kyfoscoliose, en progressieve spieratrofie. De ziekte wordt symptomatisch in de zuigelingentijd of kindertijd, en de manier van overerving is autosomaal dominant."},"pt":{"name":"Síndrome Roussy-Lévy","synonyms":["Distasia arrefléxica hereditária, tipo Roussy-Levy"]},"pl":{"name":"Zespół Roussy'ego i Lévy'ego","synonyms":["Dziedziczna dystazja z brakiem odruchów, typ Roussy'ego i Lévy'ego"]},"cs":{"name":"Roussyho-Lévyho syndrom","synonyms":["Dědičná areflexní dystasie, Roussyho-Lévyho typ","Roussy-Lévyho syndrom","Dědičná areflexní dystasie, Roussy-Lévyho typ"]},"uk":{"name":"Синдром Руссі-Леві","synonyms":["Спадкова арефлекторна дистазія типу Руссі-Леві"],"definition":"A rare demyelinating hereditary motor and sensory neuropathy characterized by prominent gait ataxia, pes cavus, tendon areflexia, distal limb weakness, tremor in the upper limbs, distal sensory loss, kyphoscoliosis, and progressive muscle atrophy. The disease becomes symptomatic in infancy or childhood, mode of inheritance is autosomal dominant."},"zh":{"name":"Roussy-LÚvy 综合征","synonyms":["遗传性无反射性站立困难，Roussy-Lévy型"]},"tr":{"name":"Roussy-Lévy sendromu","synonyms":["Kalıtsal arefleksik distazi, Roussy-Lévy tipi"]}},"xrefs":[{"source":"OMIM","code":"180800","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.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1790389383"},{"source":"MONDO","code":"0008392","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0205713","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4741","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10063449","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":140453,"name":"Autosomal dominant hereditary demyelinating motor and sensory neuropathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"MPZ","name":"myelin protein zero","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10553995[PMID]","hgnc":"7225","ensembl":"ENSG00000158887","omim":"159440","loci":["1q23.3"]},{"symbol":"PMP22","name":"peripheral myelin protein 22","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9543325[PMID]_18592125[PMID]","hgnc":"9118","ensembl":"ENSG00000109099","omim":"601097","loci":["17p12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-03-08","source":"18592125[PMID]_29469679[PMID]","terms":[{"hpo":"HP:0007131","label":"Acute demyelinating polyneuropathy","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:0003431","label":"Decreased motor nerve conduction velocity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003693","label":"Distal amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007328","label":"Impaired pain sensation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010829","label":"Impaired temperature sensition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002495","label":"Impaired vibratory sensation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002070","label":"Limb ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002174","label":"Postural tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007141","label":"Sensorimotor neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003474","label":"Somatic sensory dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002359","label":"Frequent falls","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008954","label":"Intrinsic hand muscle atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002839","label":"Urinary bladder sphincter dysfunction","frequency":"Occasional (29-5%)","criteria":null}]}}