{"orpha":101011,"name":"Autosomal dominant spastic paraplegia type 31","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPG31"],"definition":"A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-101011/","orphanet_url":"https://www.orpha.net/en/disease/detail/101011","names":{"fr":{"name":"Paraplégie spastique autosomique dominante type 31","synonyms":["SPG31"],"definition":"La paraplégie spastique autosomique dominante type 31 (SPG31) est un type de paraplégie spastique héréditaire. Elle se manifeste habituellement par un phénotype pur, consistant en une faiblesse proximale des extrémités inférieures, une démarche spastique et des réflexes brusques, avec un âge d'apparition bimodal : pendant l'enfance ou à l'âge adulte (après 30 ans). Dans certains cas, elle peut se manifester par un phénotype complexe, donc les signes additionnels incluent une neuropathie périphérique, une paralysie bulbaire (avec dysarthrie et dysphagie), une amyotrophie distale et un trouble distal du ressenti des vibrations."},"de":{"name":"Spastische Paraplegie, autosomal-dominante, Typ 31","synonyms":["SPG31"],"definition":"Eine seltene Form der hereditären spastischen Paraplegie, die in der Regel durch einen reinen Phänotyp mit proximaler Schwäche der unteren Extremitäten, spastischen Gang und lebhaften Reflexen gekennzeichnet ist. Sie zeigt ein bimodales Manifestationsalter, entweder in der Kindheit oder im Erwachsenenalter (› 30 Jahre). In einigen Fällen kann es sich um einen komplexen Phänotyp mit zusätzlichen assoziierten Manifestationen wie peripherer Neuropathie, Bulbärparese (mit Dysarthrie und Dysphagie), distaler Amyotrophie und beeinträchtigter distaler Vibrationsempfindlichkeit handeln."},"es":{"name":"Paraplejía espástica autosómica dominante tipo 31","synonyms":["SPG31"],"definition":"Es un tipo de paraplejía espástica hereditaria generalmente caracterizada por un fenotipo puro de debilidad proximal de las extremidades inferiores con marcha espástica y reflejos vivos, con una edad de inicio bimodal en la infancia o en la edad adulta (>30 años). En algunos casos, puede presentarse como un fenotipo complejo con otras manifestaciones asociadas incluyendo neuropatía periférica, parálisis bulbar (con disartria y disfagia), amiotrofia distal y alteración distal de la sensibilidad vibratoria."},"it":{"name":"Paraplegia spastica autosomica dominante, tipo 31","synonyms":["SPG31"],"definition":"La paraplegia spastica autosomica dominante tipo 31 (SPG31) è una paraplegia spastica ereditaria di solito associata ad un quadro clinico puro caratterizzato da debolezza prossimale delle estremità inferiori con andatura spastica e riflessi velocizzati; l'età di esordio è bimodale potendosi collocare nell'infanzia o nell'età adulta (>30 anni). In alcuni casi il quadro clinico è complesso ed è caratterizzato da altri segni clinici, come la neuropatia periferica, la paralisi bulbare (con disartria e disfagia), l'amiotrofia distale e la compromissione del senso della vibrazione distale."},"nl":{"name":"Autosomaal dominante spastische paraplegie type 31","synonyms":["SPG31"],"definition":"Een zeldzaam type van erfelijke spastische paraplegie, doorgaans gekarakteriseerd door een zuiver fenotype van proximale zwakte van de onderste ledematen met spastische gang en hoge reflexen, en met een bimodale aanvangsleeftijd in ofwel de kindertijd ofwel de volwassenheid (>30 jaar). In sommige gevallen is sprake van een complex fenotype met bijkomende geassocieerde manifestaties waaronder perifere neuropathie, bulbaire paralyse (met dysartrie en dysfagie), distale amyotrofie, en verstoorde distale vibratiezin."},"pt":{"name":"Paraplegia espástica autossómica dominante tipo 31","synonyms":["SPG31"]},"pl":{"name":"Autosomalna recesywna paraplegia spastyczna typu 31","synonyms":["SPG31"]},"cs":{"name":"Autozomálně dominantní spastická paraplegie, typ 31","synonyms":["SPG31"]},"uk":{"name":"Аутосомно-домінантна спастична параплегія, тип 31","synonyms":["SPG31"],"definition":"A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense."},"zh":{"name":"常染色体显性遗传痉挛性截瘫31型","synonyms":["SPG31"],"definition":"常染色体显性遗传性痉挛性截瘫31型是一种罕见的遗传性痉挛性截瘫，通常以下肢近端无力的纯表现型为特征，步态痉挛，反应敏捷，发病年龄为儿童或成年( inf 30岁)。在某些情况下，它可以表现为复杂的表型，并伴有其他相关表现，包括周围神经病、球麻痹(伴有构音障碍和吞咽困难)、远端肌萎缩和远端振动觉受损。"},"tr":{"name":"Otozomal dominant spastik parapleji tip 31","synonyms":["SPG31"]}},"xrefs":[{"source":"OMIM","code":"610250","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":"index","validated":true,"icd11_uri":"508586160"},{"source":"MONDO","code":"0012453","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565210","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1853247","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10817","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":320342,"name":"Pure or complex autosomal dominant spastic paraplegia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"REEP1","name":"receptor accessory protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22703882[PMID]","hgnc":"25786","ensembl":"ENSG00000068615","omim":"609139","loci":["2p11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-02-12","source":"16565863[PMID]_19034539[PMID]","terms":[{"hpo":"HP:0001348","label":"Brisk reflexes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008994","label":"Proximal muscle weakness in lower limbs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002064","label":"Spastic gait","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009046","label":"Difficulty running","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002936","label":"Distal sensory impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007350","label":"Hyperreflexia in upper limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010831","label":"Impaired proprioception","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002395","label":"Lower limb hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008956","label":"Proximal lower limb amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002483","label":"Bulbar signs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030237","label":"Hand muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001285","label":"Spastic tetraparesis","frequency":"Occasional (29-5%)","criteria":null}]}}