{"orpha":163684,"name":"Leukoencephalopathy-dystonia-motor neuropathy syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Leukoencephalopathy-dystonia-motor neuropathy syndrome is a peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-163684/","orphanet_url":"https://www.orpha.net/en/disease/detail/163684","names":{"fr":{"name":"Syndrome de leucoencéphalopathie-dystonie-neuropathie motrice","definition":"Maladie neurodégénérative peroxysomale caractérisée par un torticolis spasmodique, un tremblement dystonique de la tête, un tremblement intentionnel, un nystagmus, une hyposmie et un hypogonadisme hypergonadotrope avec azoospermie. De légers signes d'atteinte cérébelleuse (tremblement intentionnel du côté gauche, troubles de l'équilibre et instabilité de la marche) sont également observés. L'imagerie par résonance magnétique (IRM) montre un hypersignal bilatéral au niveau du thalamus, des lésions en forme de papillon dans le pons et des lésions dans la région occipitale, tandis que les examens de conduction nerveuse dans les membres inférieurs montrent une neuropathie à prédominance motrice et légèrement sensorielle."},"de":{"name":"Leukoenzephalopathie - Dystonie - motorische Neuropathie"},"es":{"name":"Síndrome de leucoencefalopatía-distonía-neuropatía motora","definition":"Es un trastorno neurodegenerativo peroxisomal caracterizado por tortícolis espasmódica, temblor distónico de cabeza, temblor de intención, nistagmo, hiposmia e hipogonadismo hipergonadotrófico con azoospermia. También se observan leves trastornos cerebelosos (temblor de intención en el lado izquierdo, alteraciones del equilibrio y de la marcha). La resonancia magnética (RM) muestra hiperintensidad talámica bilateral, lesiones del tronco cerebral ''en mariposa'' y lesiones en la región occipital. Los estudios de la velocidad de conducción nerviosa de las extremidades inferiores muestran una neuropatía predominantemente motora y ligeramente sensitiva."},"it":{"name":"Leucoencefalopatia - distonia - neuropatia motoria","definition":"La leucoencefalopatia - distonia - neuropatia motoria è una malattia neurodegenerativa perossisomiale, caratterizzata da torcicollo spasmodico, tremore distonico del capo, tremore intenzionale, nistagmo, iposmia e ipogonadismo ipergonadotropo con azoospermia. Sono stati descritti anche alcuni segni cerebellari (tremore intenzionale sul lato sinistro, compromissione dell'equilibrio e dell'andatura). La risonanza magnetica (RMN) evidenzia segnali di iperintensità bilaterale nel talamo, lesioni a forma di farfalla nel ponte e lesioni nella regione occipitale, mentre le indagini della conduzione nervosa negli arti inferiori evidenziano una neuropatia prevalentemente motoria e lievemente sensitiva."},"nl":{"name":"Leuko-encefalopathie - dystonie - motorische neuropathie-syndroom","definition":"Leuko-encefalopathie - dystonie - motorische neuropathie-syndroom is een peroxisomale, neurodegeneratieve stoornis die gekarakteriseerd wordt door spasmodische torticollis, dystonische tremor van het hoofd, intentietremor, nystagmus, hyposmie, en hypergonadotroop hypogonadisme met azoöspermie. Geringe cerebellaire tekenen (intentietremor aan de linkerzijde, evenwichts- en gangstoornissen) worden ook opgemerkt. Beeldvorming met magnetische resonantie (MRI) toont bilaterale hyperintense signalen in de thalamus, vlindervormige laesies in de pons, en laesies in de occipitale regio, terwijl zenuwgeleidingsstudies van de onderste ledematen een overwegend motorische en geringe sensorische neuropathie tonen."},"pt":{"name":"Síndrome de leucoencefalopatia-distonia-neuropatia motora"},"pl":{"name":"Leukoencefalopatia- dystonia - neuropatia ruchowa"},"cs":{"name":"Syndrom zahrnující leukoencefalopatii, dystonii a motorickou neuropatii"},"uk":{"name":"Синдром лейкоенцефалопатії-дистонії-моторної нейропатії","definition":"Leukoencephalopathy-dystonia-motor neuropathy syndrome is a peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy."},"zh":{"name":"脑白质病伴肌张力障碍和运动神经病","definition":"白质脑病-肌张力障碍-运动神经病综合征是一种过氧化物酶体型神经退行性疾病，其特征是痉挛性斜颈、肌张力障碍性头部震颤、意向性震颤、眼球震颤、嗅觉减退以及高促性腺激素型性腺功能减退伴精子缺乏。也可观察到轻度小脑体征(左侧意向性震颤、平衡障碍和步态不稳)。磁共振成像(MRI)显示双侧丘脑高信号，脑桥蝴蝶样病变，枕区病变，而下肢的神经传导检查显示以运动神经病为主，且有轻微的感觉神经病。"},"tr":{"name":"Lökoensefalopati-distoni-motor nöropati sendromu"}},"xrefs":[{"source":"OMIM","code":"613724","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E75.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C57.1","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0013391","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518784","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12471","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":68356,"name":"Leukodystrophy","classifications":[156,181]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":79188,"name":"Peroxisomal beta-oxidation disorder","classifications":[150,156,233]}],"children":[],"genes":[{"symbol":"SCP2","name":"sterol carrier protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16685654[PMID]","hgnc":"10606","ensembl":"ENSG00000116171","omim":"184755","loci":["1p32.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"16685654[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_16685654[PMID]"}],"phenotypes":null}