{"orpha":320355,"name":"Autosomal dominant spastic paraplegia type 41","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPG41"],"definition":"A pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-320355/","orphanet_url":"https://www.orpha.net/en/disease/detail/320355","names":{"fr":{"name":"Paraplégie spastique autosomique dominante type 41","synonyms":["SPG41"],"definition":"La paraplégie spastique autosomique dominante type 41 est une forme pure de paraplégie spastique héréditaire, caractérisée par la survenue à l'adolescence ou en début de l'âge adulte d'une paraplégie spastique lentement progressive, d'une faiblesse musculaire proximale atteignant les extrémités inférieures et une faiblesse affectant les petits muscles des mains, ainsi qu'une hyperréflexie, une démarche spastique et une légère atteinte urinaire."},"de":{"name":"Spastische Paraplegie, autosomal-dominante, Typ 41","synonyms":["SPG41"],"definition":"Die autosomal-dominante spastische Paraplegie Typ 41 ist eine reine Form der hereditären spastischen Paraplegie, die durch einen Beginn im Jugend- oder frühen Erwachsenenalter mit langsam fortschreitender spastischer Paraplegie, proximaler Muskelschwäche der unteren Extremitäten und der kleinen Handmuskeln, Hyperreflexie, spastischem Gang und leichter Beeinträchtigung der Harnwege gekennzeichnet ist."},"es":{"name":"Paraplejía espástica autosómica dominante tipo 41","synonyms":["SPG41"],"definition":"Es una forma pura de paraplejía espástica hereditaria caracterizada por el inicio, en la adolescencia o en la edad adulta temprana, de paraplejía espástica lentamente progresiva, debilidad muscular proximal de las extremidades inferiores y pequeños músculos de la mano, hiperreflexia, marcha espástica y compromiso urinario leve."},"it":{"name":"Paraplegia spastica autosomica dominante, tipo 41","synonyms":["SPG41"],"definition":"La paraplegia spastica autosomica dominante tipo 41 è una forma pura di paraplegia spastica ereditaria, caratterizzata da paraplegia spastica a progressione lenta, debolezza dei muscoli prossimali degli arti inferiori e dei piccoli muscoli delle mani, iperreflessia, andatura spastica e lieve compromissione urinaria. L'esordio varia tra l'adolescenza e la prima età adulta."},"nl":{"name":"Autosomaal dominante spastische paraplegie type 41","synonyms":["SPG41"],"definition":"Een zuivere vorm van erfelijke spastische paraplegie, gekarakteriseerd door aanvang in de adolescentie of vroege volwassenheid van traag progressieve spastische paraplegie, proximale spierzwakte van onderste ledematen en kleine handspieren, hyperreflexie, spastische gang en milde urinaire complicaties."},"pt":{"name":"Paraplegia espástica autossómica dominante tipo 41"},"pl":{"name":"Autosomalna dominująca paraplegia spastyczna typu 41","synonyms":["SPG41"]},"cs":{"name":"Autozomálně dominantní spastická paraplegie, typ 41","synonyms":["SPG41"]},"uk":{"name":"Аутосомно-домінантна спастична параплегія, тип 41","synonyms":["SPG41"],"definition":"A pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise."},"zh":{"name":"常染色体显性遗传痉挛性截瘫41型","synonyms":["SPG41"],"definition":"一种单纯的遗传性痉挛性截瘫，其特征是在青春期或青年期出现缓慢进行性痉挛性截瘫，下肢和小手肌近端肌肉无力，反射亢进，痉挛性步态和轻度泌尿系统损害。"},"tr":{"name":"Otozomal dominant spastik parapleji tip 41","synonyms":["SPG41"]}},"xrefs":[{"source":"OMIM","code":"613364","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8B44.00","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013239","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3888208","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":100980,"name":"Autosomal dominant pure spastic paraplegia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SPG41","name":"spastic paraplegia 41 (autosomal dominant)","gene_type":"Disorder-associated locus","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18364116[PMID]","hgnc":"34382","ensembl":null,"omim":"613364","loci":["11p14.1-p11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"18364116[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_18364116[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-04-25","source":"18364116[PMID]","terms":[{"hpo":"HP:0002314","label":"Degeneration of the lateral corticospinal tracts","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002061","label":"Lower limb spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007020","label":"Progressive spastic paraplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002064","label":"Spastic gait","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030237","label":"Hand muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007210","label":"Lower limb amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003701","label":"Proximal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100561","label":"Spinal cord lesion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000012","label":"Urinary urgency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012898","label":"Abnormal lower-limb motor evoked potentials","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0002921","label":"Abnormality of the cerebrospinal fluid","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Excluded (0%)","criteria":null}]}}