{"orpha":99013,"name":"Spastic paraplegia type 7","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPG7"],"definition":"A form of hereditary spastic ataxia characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity and sometimes predominant cerebellar ataxia. In addition to frequent sphincter dysfunction and decreased vibratory sense at the ankles, manifestations may include optical neuropathy, nystagmus, blepharoptosis, ophthalmoplegia, decreased hearing, scoliosis, <i>pes cavus</i>, motor and sensory neuropathy, muscle atrophy, parkinsonism, and dystonia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99013/","orphanet_url":"https://www.orpha.net/en/disease/detail/99013","names":{"fr":{"name":"Paraplégie spastique type 7","synonyms":["SPG7"],"definition":"Forme d'ataxie spastique héréditaire caractérisée par une faiblesse progressive des membres inférieurs bilatéraux et une spasticité, et parfois une ataxie cérébelleuse prédominante, qui survient généralement à l'âge adulte (mais l'âge auquel se manifeste la maladie se situe entre 10&nbsp;et&nbsp;72&nbsp;ans). Outre un dysfonctionnement fréquent des sphincters et une diminution du sens vibratoire au niveau des chevilles, les manifestations peuvent inclure : neuropathie optique, nystagmus, blépharoptose, ophtalmoplégie, déficience auditive, scoliose, pied creux, neuropathie sensitive et motrice, atrophie musculaire, parkinsonisme et dystonie."},"de":{"name":"Spastische Paraplegie Typ 7","synonyms":["SPG7"],"definition":"Eine Form der hereditären spastischen Ataxie, die durch den Beginn einer fortschreitenden beidseitigen Schwäche und Spastik der unteren Gliedmaßen und einer manchmal vorherrschenden Kleinhirnataxie gekennzeichnet ist, die in der Regel im Erwachsenenalter (aber im Alter von 10 bis 72 Jahren) auftritt. Neben häufigen Sphinkterstörungen und vermindertem Vibrationssinn an den Knöcheln können auch optische Neuropathie, Nystagmus, Blepharoptose, Ophthalmoplegie, vermindertes Hörvermögen, Skoliose, <i>Pes cavus</i>, motorische und sensorische Neuropathie, Muskelatrophie, Parkinsonismus und Dystonie auftreten."},"es":{"name":"Paraplejía espástica tipo 7","synonyms":["SPG7"],"definition":"Es una forma de ataxia espástica hereditaria caracterizada, generalmente, por un inicio en la edad adulta (pero que puede debutar entre los 10 y los 72 años de edad) de debilidad y espasticidad bilateral progresiva de las extremidades inferiores y, en ocasiones, ataxia cerebelosa predominante. Además de la frecuente incontinencia esfinteriana y disminución del sentido vibratorio en los tobillos, las manifestaciones pueden incluir neuropatía óptica, nistagmo, blefaroptosis, oftalmoplejía, hipoacusia, escoliosis, <i>pes cavus</i>, neuropatía sensitivomotora, atrofia muscular, parkinsonismo y distonía."},"it":{"name":"Paraplegia spastica tipo 7","synonyms":["SPG7"],"definition":"Si tratta di una forma di atassia spastica ereditaria, che di solito esordisce nell'età adulta (tra i 10 e i 72 anni) con debolezza e spasticità bilaterali e progressive degli arti inferiori, talvolta associate ad atassia cerebellare. Sono comuni la disfunzione degli sfinteri e la riduzione del senso della vibrazione alle caviglie. I pazienti possono presentare anche neuropatia ottica, nistagmo, blefaroptosi, oftalmoplegia, ipoacusia, scoliosi, piede cavo, neuropatia motoria e sensoriale, atrofia muscolare, parkinsonismo e distonia."},"nl":{"name":"Spastische paraplegie type 7","synonyms":["SPG7"],"definition":"Een vorm van hereditaire spastische ataxie, gekenmerkt door meestal aanvang in de volwassenheid (maar gaande van 10-72 jaar) van progressieve bilaterale zwakte en spasticiteit van onderste ledematen, en soms overwegend cerebellaire ataxie. Bovenop frequent disfunctie van sfincter en verminderde vibratiezin ter hoogte van enkel, zijn mogelijke manifestaties onder meer opticusneuropathie, nystagmus, blefaroptose, oftalmoplegie, gehoorverlies, scoliose, <i>pes cavus</i>, motorische en sensorische neuropathie, spieratrofie, parkinsonisme, en dystonie."},"pt":{"name":"Paraplegia espástica tipo 7","synonyms":["SPG7"],"definition":"Uma forma de ataxia espástica hereditária caracterizada habitualmente por início na idade adulta (variando de 10 a 72 anos) de fraqueza progressiva bilateral dos membros inferiores e espasticidade e, por vezes, ataxia cerebelosa predominante. Adicionalmente à habitual disfunção de esfíncteres e diminuição da sensação vibratória nos tornozelos, as manifestações podem incluir neuropatia óptica, nistagmo, blefaroptose, oftalmoplegia, diminuição da audição, escoliose, pes cavus, neuropatia motora e sensorial, atrofia muscular, parkinsonismo e distonia."},"pl":{"name":"Autosomalna recesywna paraplegia spastyczna typu 7","synonyms":["SPG7","Paraplegia spastyczna typu 7"]},"cs":{"name":"Spastická paraplegie, typ 7","synonyms":["SPG7"]},"uk":{"name":"Спастична параплегія, тип 7","synonyms":["SPG7"],"definition":"A form of hereditary spastic ataxia characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity and sometimes predominant cerebellar ataxia. In addition to frequent sphincter dysfunction and decreased vibratory sense at the ankles, manifestations may include optical neuropathy, nystagmus, blepharoptosis, ophthalmoplegia, decreased hearing, scoliosis, <i>pes cavus</i>, motor and sensory neuropathy, muscle atrophy, parkinsonism, and dystonia."},"zh":{"name":"遗传痉挛性截瘫7型","synonyms":["SPG7"],"definition":"该病是遗传性痉挛性截瘫的一种，通常在成年(范围10-72岁)起病，出现进行性双下肢无力和痉挛、括约肌功能障碍、踝关节振动感觉减退以及其他表现，包括视神经病、眼球震颤、斜视、听力下降、脊柱侧弯、下腔静脉畸形、运动和感觉神经病、肌萎缩、眼睑下垂和眼肌麻痹。"},"tr":{"name":"Spastik parapleji tip 7","synonyms":["SPG7"]}},"xrefs":[{"source":"OMIM","code":"607259","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":"99583038"},{"source":"MONDO","code":"0011803","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C580457","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3711370","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4927","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":183518,"name":"Hereditary ataxia","classifications":[156,181]},{"orpha":35696,"name":"Mitochondrial disorder due to a defect in mitochondrial protein synthesis","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":320342,"name":"Pure or complex autosomal dominant spastic paraplegia","classifications":[156,181]},{"orpha":320346,"name":"Pure or complex autosomal recessive spastic paraplegia","classifications":[156,181]},{"orpha":441434,"name":"Syndromic hereditary optic neuropathy","classifications":[156,189]}],"children":[],"genes":[{"symbol":"SPG7","name":"SPG7 matrix AAA peptidase subunit, paraplegin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17646629[PMID]_20301286[PMID]","hgnc":"11237","ensembl":"ENSG00000197912","omim":"602783","loci":["16q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Adolescent","Adult","Childhood","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-02-12","source":"9634528[PMID]_9635427[PMID]_17646629[PMID]_17646629[PMID]","terms":[{"hpo":"HP:0002064","label":"Spastic gait","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008322","label":"Abnormal mitochondrial morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011446","label":"Abnormality of higher mental function","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001611","label":"Hypernasal speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002166","label":"Impaired vibration sensation in the lower limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002395","label":"Lower limb hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006895","label":"Lower limb hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003200","label":"Ragged-red muscle fibers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007164","label":"Slowed slurred speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003474","label":"Somatic sensory dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000605","label":"Supranuclear gaze palsy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000012","label":"Urinary urgency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000543","label":"Optic disc pallor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003484","label":"Upper limb muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012514","label":"Lower limb pain","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Very rare (<4-1%)","criteria":null}]}}