{"orpha":100989,"name":"Autosomal dominant spastic paraplegia type 8","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPG8"],"definition":"A rare, pure or complex form of hereditary spastic paraplegia characterized by early adulthood onset of slowly progressive lower limb spasticity resulting in gait disturbances, hyperreflexia and extensor plantar responses, urinary urgency and/or incontinence, muscle weakness, decreased vibration sense and mild muscular atrophy in lower extremities. It may be associated with complicating signs, such as sensory neuropathy, ataxia (i.e. mild dysmetria, uncoordinated eye movement) and mild dysphagia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-100989/","orphanet_url":"https://www.orpha.net/en/disease/detail/100989","names":{"fr":{"name":"Paraplégie spastique autosomique dominante type 8","synonyms":["SPG8"],"definition":"Forme pure ou complexe rare de paraplégie spastique héréditaire, caractérisée par l'apparition d'une spasticité lentement progressive des membres inférieurs au début de l'âge adulte, entraînant des troubles de la marche, une hyperréflexie, un signe de Babinski, une miction impérieuse et/ou une incontinence urinaire, une faiblesse musculaire, une réduction du sens vibratoire et une légère atrophie musculaire des membres inférieurs. Elle peut être associée à des signes de complication, tels qu'une neuropathie sensitive, une ataxie (par exemple, légère dysmétrie, mauvaise coordination des mouvements oculaires) et une légère dysphagie."},"de":{"name":"Spastische Paraplegie, autosomal-dominante, Typ 8","synonyms":["SPG8"],"definition":"Eine reine oder komplexe Form der hereditären spastischen Paraplegie, die durch eine im frühen Erwachsenenalter einsetzende, langsam fortschreitende Spastik der unteren Extremitäten gekennzeichnet ist, die zu Gangstörungen, Hyperreflexie und extensorem Plantarreflex, Harndrang und/oder Inkontinenz, Muskelschwäche, vermindertem Vibrationsempfinden und leichter Muskelatrophie der unteren Extremitäten führt. Sie kann mit komplizierenden Anzeichen wie sensorischer Neuropathie, Ataxie (d. h. leichte Dysmetrie, unkoordinierte Augenbewegungen) und leichter Dysphagie einhergehen."},"es":{"name":"Paraplejía espástica autosómica dominante tipo 8","synonyms":["SPG8"],"definition":"Es una forma pura o compleja de paraplejía espástica hereditaria caracterizada por espasticidad lentamente progresiva de las extremidades inferiores de inicio entre la infancia y la edad adulta y que resulta en alteraciones de la marcha, hiperreflexia y reflejo plantar extensor, que pueden estar asociadas con signos de complicación, tales como afectación de las extremidades superiores, neuropatía sensitiva, ataxia (discreta dismetría, movimiento ocular descoordinado) y leve disfagia. También pueden asociarse síntomas adicionales, tales como tenesmo vesical y/o incontinencia urinaria, debilidad muscular, disminución de la sensibilidad vibratoria y leve atrofia muscular de las extremidades inferiores."},"it":{"name":"Paraplegia spastica autosomica dominante tipo 8","synonyms":["SPG8"],"definition":"Si tratta di una forma rara, pura o complessa, di paraplegia spastica ereditaria, caratterizzata da spasticità degli arti inferiori a progressione lenta e ad esordio nella prima età adulta, associata ad anomalie dell'andatura, iperreflessia e risposte plantari in estensione, urgenza minzionale e/o incontinenza, debolezza muscolare, riduzione del senso della vibrazione e lieve atrofia dei muscoli degli arti inferiori. Può associarsi ad altri segni clinici che complicano la malattia, come la neuropatia sensoriale, l'atassia (lieve dismetria, movimenti oculari non coordinati) e la lieve disfagia."},"nl":{"name":"Autosomaal dominante spastische paraplegie type 8","synonyms":["SPG8"],"definition":"Een zeldzame, zuivere of complexe vorm van hereditaire spastische paraplegie, gekenmerkt door aanvang in de vroege volwassenheid van traag progressieve spasticiteit van onderste ledematen die resulteert in gangstoornissen, hyperreflexie en voetzoolreflexen in extensie, urinaire urgentie en/of incontinentie, spierzwakte, verminderde vibratiezin, en milde spieratrofie in onderste extremiteiten. Het kan gepaard gaan met complicerende verschijnselen, zoals sensorische neuropathie, ataxie (i.e. milde dysmetrie, ongecoördineerde oogbeweging), en milde dysfagie."},"pt":{"name":"Paraplegia espástica autossómica dominante tipo 8","synonyms":["SPG8"],"definition":"Forma rara, pura ou complexa de paraplegia espástica hereditária caracterizada pelo início na idade adulta de espasticidade dos membros inferiores lentamente progressiva, resultando em distúrbios da marcha, hiperreflexia e respostas plantares extensoras, urgência e/ou incontinência urinária, fraqueza muscular, sensação de vibração diminuída e atrofia muscular ligeira nas extremidades inferiores. Pode estar associada a sinais de mau prognóstico como neuropatia sensorial, ataxia (isto é, dismetria leve, movimento ocular descoordenado) e disfagia leve."},"pl":{"name":"Autosomalna dominująca paraplegia spastyczna typu 8","synonyms":["SPG8"]},"cs":{"name":"Autozomálně dominantní spastická paraplegie, typ 8","synonyms":["SPG8"]},"uk":{"name":"Аутосомно-домінантна спастична параплегія, тип 8","synonyms":["SPG8"],"definition":"A rare, pure or complex form of hereditary spastic paraplegia characterized by early adulthood onset of slowly progressive lower limb spasticity resulting in gait disturbances, hyperreflexia and extensor plantar responses, urinary urgency and/or incontinence, muscle weakness, decreased vibration sense and mild muscular atrophy in lower extremities. It may be associated with complicating signs, such as sensory neuropathy, ataxia (i.e. mild dysmetria, uncoordinated eye movement) and mild dysphagia."},"zh":{"name":"常染色体显性遗传痉挛性截瘫8型","synonyms":["SPG8"],"definition":"常染色体显性遗传性痉挛性截瘫8型是遗传性痉挛性截瘫一种单纯或复杂形式的遗传性痉挛性截瘫，其特征是从儿童期到成年期出现缓慢进行性的下肢痉挛，导致步态障碍、反射亢进和足底伸肌反应，这可能与复杂的体征有关，如上肢受累、感觉神经病变、共济失调(即轻度运动障碍、眼球运动不协调)和轻度吞咽困难。其他症状，包括尿急和/或大小便失禁，肌肉无力，振动觉减弱和下肢轻度肌肉萎缩，也可能与此相关。"},"tr":{"name":"Otozomal dominant spastik parapleji tip 8","synonyms":["SPG8"]}},"xrefs":[{"source":"OMIM","code":"603563","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":"779301090"},{"source":"MONDO","code":"0011339","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C580458","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1863704","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9591","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":"WASHC5","name":"WASH complex subunit 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17160902[PMID]","hgnc":"28984","ensembl":"ENSG00000164961","omim":"610657","loci":["8q24.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-04-25","source":"23455931[PMID]_10797436[PMID]_9973294[PMID]_NBK1827[PMID]","terms":[{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002314","label":"Degeneration of the lateral corticospinal tracts","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","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:0002166","label":"Impaired vibration sensation in the lower limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002070","label":"Limb ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002406","label":"Limb dysmetria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009049","label":"Peroneal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002064","label":"Spastic gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100561","label":"Spinal cord lesion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000012","label":"Urinary urgency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002169","label":"Clonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006986","label":"Upper limb spasticity","frequency":"Occasional (29-5%)","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}]}}