{"orpha":100986,"name":"Autosomal recessive spastic paraplegia type 5A","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPG5A"],"definition":"Autosomal recessive spastic paraplegia type 5A is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-100986/","orphanet_url":"https://www.orpha.net/en/disease/detail/100986","names":{"fr":{"name":"Paraplégie spastique autosomique récessive type 5A","synonyms":["SPG5A"],"definition":"La paraplégie spastique autosomique récessive type 5A est une forme de paraplégie spastique héréditaire. Elle se caractérise soit par un phénotype pur de paraplégie spastique des extrémités inférieures, lentement progressive avec dysfonction rénale et des pieds creux, ou par une présentation complexe dont les manifestations additionnelles incluent des signes cérébelleux, un nystagmus, une atrophie musculaire distale ou généralisée et une atteinte cognitive. L'âge de présentation est très variable, allant du début de l'enfance à l'âge adulte. Chez certains patients, une hyperintensité de la substance blanche et une atrophie cérébelleuse et de la moelle épinière peuvent être observées à l'imagerie par résonance magnétique cérébrale."},"de":{"name":"Spastische Paraplegie, autosomal-rezessive, Typ 5A","synonyms":["SPG5A"],"definition":"Die autosomal-rezessive spastische Paraplegie Typ 5A ist eine Form der hereditären spastischen Paraplegie, die entweder durch einen reinen Phänotyp einer langsam progredienten spastischen Paraplegie der unteren Extremitäten mit Blasenfunktionsstörung und Pes cavus oder durch eine komplexe Präsentation mit zusätzlichen Manifestationen wie zerebellären Zeichen, Nystagmus, distaler oder generalisierter Muskelatrophie und kognitiven Beeinträchtigungen gekennzeichnet ist. Das Alter des Auftretens ist sehr variabel und reicht von der frühen Kindheit bis zum Erwachsenenalter. In der Magnetresonanztomographie des Gehirns können bei einigen Patienten eine Hyperintensität der weißen Substanz sowie eine Atrophie des Kleinhirns und des Rückenmarks festgestellt werden."},"es":{"name":"Paraplejía espástica autosómica recesiva tipo 5A","synonyms":["SPG5A"],"definition":"La paraplejia espástica tipo 5A autosómica recesiva es una forma de paraplejía espástica hereditaria caracterizada, bien por un fenotipo puro de paraplejía espástica lentamente progresiva de las extremidades inferiores con disfunción vesical y pie cavo, o por una presentación compleja con manifestaciones adicionales que incluyen signos cerebelosos, nistagmus, atrofia muscular distal o generalizada y deterioro cognitivo. La edad de inicio es altamente variable, desde la primera infancia hasta la edad adulta. En algunos afectados, se puede observar hiperintensidad de la sustancia blanca y atrofia cerebelosa y de la médula espinal en la resonancia magnética cerebral."},"it":{"name":"Paraplegia spastica autosomica recessiva, tipo 5A","synonyms":["SPG5A"],"definition":"La paraplegia spastica autosomica recessiva tipo 5A è una forma di paraplegia spastica ereditaria; il quadro clinico può essere ''puro'', ossia caratterizzato da paraplegia spastica a progressione lenta delle estremità inferiori associata a disfunzioni della vescica e piede cavo, oppure ''complesso'', ossia caratterizzato da altri segni clinici (segni cerebellari, nistagmo, atrofia muscolare distale o generalizzata e deficit cognitivi). L'età d'esordio è molto variabile e si colloca tra la prima infanzia e l'età adulta. In alcuni pazienti la risonanza magnetica del cervello rivela iperintensità di segnale della sostanza bianca e atrofia del midollo spinale."},"nl":{"name":"Autosomaal recessieve spastische paraplegie type 5A","synonyms":["SPG5A"],"definition":"Autosomaal recessieve spastische paraplegie type 5A is een vorm van erfelijke spastische paraplegie die gekarakteriseerd wordt door ofwel een zuiver fenotype van traag progressieve spastische paraplegie van de onderste ledematen met blaasdysfunctie en pes cavus, ofwel een complex beeld met bijkomende manifestaties waaronder cerebellaire tekenen, nystagmus, distale of gegeneraliseerde spieratrofie en cognitieve beperkingen. De aanvangsleeftijd is zeer variabel, gaande van de vroege kindertijd tot de volwassenheid. Bij sommige patiënten kan hyperintensiteit van de witte stof en atrofie van het ruggenmerg opgemerkt worden na beeldvorming van de hersenen met magnetische resonantie."},"pt":{"name":"Paraplegia espástica autossómica recessiva tipo 5A","synonyms":["SPG5A"]},"pl":{"name":"Autosomalna recesywna paraplegia spastyczna typu 5A","synonyms":["SPG5A"]},"cs":{"name":"Autozomálně recesivní spastická paraplegie, typ 5A","synonyms":["SPG5A"]},"uk":{"name":"Аутосомно-рецесивна спастична параплегія, тип 5А","synonyms":["SPG5A"],"definition":"Autosomal recessive spastic paraplegia type 5A is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients."},"zh":{"name":"常染色体隐性遗传痉挛性截瘫5A型","synonyms":["SPG5A"],"definition":"常染色体隐性遗传性痉挛性截瘫5A型是一种遗传性痉挛性截瘫，其特征是表现为缓慢进行性的下肢痉挛性截瘫伴膀胱功能障碍和高弓足，或伴有小脑体征、眼球震颤、远端或全身性肌肉萎缩和认知功能障碍的复杂表现。发病年龄变化很大，从儿童早期到成年不等。在某些患者的脑磁共振成像上，可能会发现白质高信号、小脑和脊髓萎缩。"},"tr":{"name":"Otozomal resesif spastik parapleji tip 5A","synonyms":["SPG5A"]}},"xrefs":[{"source":"OMIM","code":"270800","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":"847029568"},{"source":"MONDO","code":"0010047","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564811","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1849115","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4926","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":320346,"name":"Pure or complex autosomal recessive spastic paraplegia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"CYP7B1","name":"cytochrome P450 family 7 subfamily B member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"2652","ensembl":"ENSG00000172817","omim":"603711","loci":["8q12.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-02-12","source":"19439420[PMID]_19187859[PMID]_24641183[PMID]","terms":[{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002495","label":"Impaired vibratory sensation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002061","label":"Lower limb spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001258","label":"Spastic paraplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001317","label":"Abnormal cerebellum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000079","label":"Abnormality of the urinary system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011448","label":"Ankle clonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007210","label":"Lower limb amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006827","label":"Atrophy of the spinal cord","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002070","label":"Limb ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002078","label":"Truncal ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001271","label":"Polyneuropathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009129","label":"Upper limb amyotrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003484","label":"Upper limb muscle weakness","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006986","label":"Upper limb spasticity","frequency":"Very rare (<4-1%)","criteria":null}]}}