{"orpha":101008,"name":"Autosomal recessive spastic paraplegia type 28","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPG28"],"definition":"Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-101008/","orphanet_url":"https://www.orpha.net/en/disease/detail/101008","names":{"fr":{"name":"Paraplégie spastique autosomique récessive type 28","synonyms":["SPG28"],"definition":"La paraplégie spastique autosomique récessive type 28 est une forme pure de paraplégie spastique héréditaire caractérisée par l'apparition pendant l'enfance ou l'adolescence d'une paraparésie spastique pure du muscle crural, lentement progressive, qui se manifeste par une légère faiblesse des membres inférieurs, des troubles de la démarche, des réponses plantaires d'extension et une hyperréflexie des extrémités inférieures. Les signes les plus rares incluent un trouble oculomoteur cérébelleux avec une poursuite oculaire saccadée, des pieds creux et une scoliose. Certains patients présentent aussi une perte de sensation des vibrations et des piqûres au niveau distal des jambes."},"de":{"name":"Spastische Paraplegie, autosomal-rezessive, Typ 28","synonyms":["SPG28"],"definition":"Die autosomal-rezessive spastische Paraplegie Typ 28 ist eine reine Form der hereditären spastischen Paraplegie mit Beginn im Kindes- oder Jugendalter. Sie ist gekennzeichnet durch eine langsam fortschreitende, rein krurale spastischen Paraparese, die sich durch eine leichte Schwäche der unteren Gliedmaßen, Gangschwierigkeiten, extensorische Plantarreflexe und Hyperreflexie der unteren Extremitäten manifestiert. Zu den selteneren Manifestationen gehören zerebelläre okulomotorische Störungen mit sakkadischer Augenverfolgung, Pes cavus und Skoliose. Einige Patienten zeigen auch einen Verlust von Nadel- und Vibrationsempfindlichkeit in den Unterschenkeln."},"es":{"name":"Paraplejía espástica autosómica recesiva tipo 28","synonyms":["SPG28"],"definition":"Es una forma pura de paraplejía espástica hereditaria caracterizada por un inicio en la infancia o adolescencia de paraparesia espástica muscular crural lentamente progresiva que se manifiesta con debilidad leve de las extremidades inferiores, dificultades de la marcha, respuestas plantares extensoras e hiperreflexia de las extremidades inferiores. Las manifestaciones menos comunes incluyen alteraciones oculomotoras cerebelosas con seguimiento ocular sacádico, pie cavo y escoliosis. Algunos afectados también presentan pérdida sensitiva dolorosa y vibratoria en las extremidades inferiores distales."},"it":{"name":"Paraplegia spastica autosomica recessiva, tipo 28","synonyms":["SPG28"],"definition":"La paraplegia spastica autosomica recessiva tipo 28 è una forma pura di paraplegia spastica ereditaria, caratterizzata da paraparesi spastica pura dei muscoli crurali a progressione lenta, che esordisce durante l'infanzia o l'adolescenza, con lieve debolezza degli arti inferiori, difficoltà alla deambulazione, risposte plantari in estensione e iperreflessia delle estremità inferiori. Segni meno comuni sono i deficit cerebellari oculo-motori con movimenti di inseguimento saccadici, il piede cavo e la scoliosi. Alcuni pazienti presentano perdita del senso della vibrazione e del pizzico nella porzione distale delle gambe."},"nl":{"name":"Autosomaal recessieve spastische paraplegie type 28","synonyms":["SPG28"],"definition":"Autosomaal recessieve spastische paraplegie type 28 is een zuivere vorm van erfelijke spastische paraplegie en wordt gekarakteriseerd door traag progressieve, zuivere spastische paraparese van de crurale spieren die aanvangt in de kindertijd of adolescentie en die zich manifesteert met milde zwakte van de onderste ledematen, moeilijk stappen, afwijkende voetzoolreflexen, en hyperreflexie van de onderste ledematen. Minder voorkomende manifestaties zijn onder meer cerebellaire oculomotorische stoornis met saccadische oogbewegingen, pes cavus en scoliose. Sommige patiënten vertonen ook een verlies van waarneming van prikken en trillingen in de distale benen."},"pt":{"name":"Paraplegia espástica autossómica recessiva tipo 28","synonyms":["SPG28"]},"pl":{"name":"Autosomalna recesywna paraplegia spastyczna typu 28","synonyms":["SPG28"]},"cs":{"name":"Autozomálně recesivní spastická paraplegie, typ 28","synonyms":["SPG28"]},"uk":{"name":"Аутосомно-рецесивна спастична параплегія, тип 28","synonyms":["SPG28"],"definition":"Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs."},"zh":{"name":"常染色体隐性遗传痉挛性截瘫28型","synonyms":["SPG28"],"definition":"常染色体隐性遗传性痉挛性截瘫28型是一种单纯形式的遗传性痉挛性截瘫，以儿童期或青春期缓慢进展的单纯小腿肌肉痉挛性瘫痪为特征，表现为轻度下肢无力、步态困难、足底伸肌反应和下肢反射亢进。较少见的表现包括小脑眼球运动障碍、眼球跳动、眼球凹陷和脊柱侧弯。一些患者还表现出小腿远端的针刺觉和振动感觉丧失。"},"tr":{"name":"Otozomal resesif spastik parapleji tip 28","synonyms":["SPG28"]}},"xrefs":[{"source":"OMIM","code":"609340","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8B44.01","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1622384298"},{"source":"MONDO","code":"0012256","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563732","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1836295","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"16941","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":100982,"name":"Autosomal recessive pure spastic paraplegia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"DDHD1","name":"DDHD domain containing 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23176821[PMID]","hgnc":"19714","ensembl":"ENSG00000100523","omim":"614603","loci":["14q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"27216551[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27216551[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-05-23","source":"15786464[PMID]_23176821[PMID]","terms":[{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006944","label":"Abolished vibration sense","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010830","label":"Impaired tactile sensation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002061","label":"Lower limb spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007021","label":"Pain insensitivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002172","label":"Postural instability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002064","label":"Spastic gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Frequent (79-30%)","criteria":null}]}}