{"orpha":685,"name":"Hereditary spastic paraplegia","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["Hereditary spastic paraparesis","SPG","Strümpell-Lorrain disease","Familial spastic paraplegia","HSP"],"definition":"A genetically and clinically heterogeneous group of slowly progressive neurological disorders which in the pure form is characterized by pyramidal signs (weakness, spasticity, brisk tendon reflexes, and extensor plantar responses) predominantly affecting the lower limbs and with possible association of sphincter disturbances and deep sensory loss; and in the complex form by the addition of variable neurological or non-neurological features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-685/","orphanet_url":"https://www.orpha.net/en/disease/detail/685","names":{"fr":{"name":"Paraplégie spastique héréditaire","synonyms":["HSP","Maladie de Strümpell-Lorrain","PSH","Paraparésie spasmodique héréditaire","Paraplégie spastique familiale","SPG"],"definition":"Groupe hétérogène sur le plan génétique et clinique de maladies neurologiques à progression lente, caractérisées dans leur forme pure par des signes d'atteinte pyramidale (faiblesse, spasticité, réflexes tendineux vifs, signe de Babinski positif) touchant principalement les membres inférieurs, potentiellement associées à un dysfonctionnement des sphincters et à une perte sensitive profonde ; et dans leur forme complexe par des signes neurologiques ou extraneurologiques variables, qui viennent s'ajouter aux manifestations susmentionnées."},"de":{"name":"Hereditäre spastische Paraplegie","synonyms":["Familiäre spastische Paraplegie","HSP","SPG","Spastische Spinalparalyse, hereditäre","Strümpell-Lorrain-Krankheit"],"definition":"Eine genetisch und klinisch heterogene Gruppe von langsam fortschreitenden neurologischen Störungen. Die HSPs können in reine und komplexe Formen unterteilt werden. Die reine (unkomplizierte) Form ist gekennzeichnet durch pyramidale Zeichen (Schwäche, Spastizität, rege Sehnenreflexe und extensorische Plantarreflexe) vorwiegend an den unteren Gliedmaßen möglicherweise in Assoziation mit Sphinkterstörungen und reduzierter Tiefensensibilität. Bei den komplexe Formen können darüber hinaus variable neurologische oder nicht-neurologische Merkmale auftreten."},"es":{"name":"Paraplejía espástica hereditaria","synonyms":["Enfermedad de Strümpell-Lorrain","HSP","Paraplejía espástica familiar","SPG"],"definition":"Es un grupo genético y clínicamente heterogéneo de trastornos neurológicos lentamente progresivos caracterizado, en su forma pura, por signos piramidales (debilidad, espasticidad, reflejos tendinosos vivos y respuestas plantares extensoras) que afectan predominantemente a las extremidades inferiores y con una posible asociación con alteraciones esfinterianas y déficit sensitivo profundo. En su forma compleja, se manifiesta con hallazgos adicionales variables de características neurológicas o no neurológicas."},"it":{"name":"Paraplegia spastica ereditaria","synonyms":["HSP","Malattia di Strümpell-Lorrain disease","Paraparesi spastica ereditaria","Paraplegia spastica familiare","SPG"],"definition":"Si tratta di un gruppo eterogeneo, a livello clinico e genetico, di malattie neurologiche a progressione lenta che, nella forma pura, sono caratterizzate da segni piramidali (debolezza, spasticità, velocizzazione dei riflessi tendinei e risposte plantari in estensione) che interessano soprattutto gli arti inferiori e si associano a disfunzioni sfinteriche e a perdita sensoriale profonda. Nella forma complessa, presentano anche sintomi neurologici e non-neurologici di gravità variabile."},"nl":{"name":"Hereditaire spastische paraplegie","synonyms":["Erfelijke spastische paraparese","Familiale spastische paraplegie","HSP","SPG","Ziekte van Strümpell-Lorrain"],"definition":"Een genetisch en klinisch heterogene groep van traag progressieve neurologische stoornissen die in de zuivere vorm gekarakteriseerd worden door piramidale tekenen (zwakheid, spasticiteit, overdreven peesreflexen, en voetzoolreflexen in extensie) die voornamelijk de onderste ledematen treffen en mogelijk geassocieerd zijn met stoornissen van de sluitspier en diep zintuiglijk verlies; en in de complexe vorm door bijkomstige variabele neurologische en niet-neurologische kenmerken."},"pt":{"name":"Paraplegia espástica hereditária","synonyms":["Doença de Strumpell-Lorrain","Paraparesia espástica hereditária"],"definition":"Um grupo genética e clinicamente heterogéneo de distúrbios neurológicos de progressão lenta que, na forma pura, se caracteriza por sinais piramidais (fraqueza, espasticidade, reflexos tendinosos aumentados e resposta plantar extensora) que afetam predominantemente os membros inferiores e com possível associação de distúrbios esfincterianos e perda sensorial profunda; e, na forma complexa, pela associação com características neurológicas ou não neurológicas variáveis."},"pl":{"name":"Dziedziczna paraplegia spastyczna","synonyms":["Choroba Strümpella i Lorraina","HSP","Rodzinna paraplegia spastyczna","SPG"]},"cs":{"name":"Dědičná spastická paraplegie","synonyms":["Familiární spastická paraplegie","HSP","Hereditární spastická paraparéza","SPG","Strümpellův-Lorrainův syndrom","Strümpell-Lorrainův syndrom"]},"uk":{"name":"Спадкова спастична параплегія","synonyms":["Сімейна спастична параплегія","Спадковий спастичний парапарез","HSP","SPG","Хвороба Штрюмпеля-Лоррена"],"definition":"A genetically and clinically heterogeneous group of slowly progressive neurological disorders which in the pure form is characterized by pyramidal signs (weakness, spasticity, brisk tendon reflexes, and extensor plantar responses) predominantly affecting the lower limbs and with possible association of sphincter disturbances and deep sensory loss; and in the complex form by the addition of variable neurological or non-neurological features."},"zh":{"name":"遗传性痉挛性截瘫","synonyms":["遗传性痉挛性下肢轻瘫"]},"tr":{"name":"Kalıtsal spastik parapleji","synonyms":["HSP","SPG","Strümpell-Lorrain hastalığı","Ailesel spastik parapleji","Kalıtsal spastik paraparezi"]}},"xrefs":[{"source":"ICD-10","code":"G11.4","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"8B44.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"810807375"},{"source":"MONDO","code":"0019064","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"19064","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D015419","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0037773","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6637","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10019903","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":183500,"name":"Genetic neurodegenerative disease","classifications":[156]},{"orpha":182070,"name":"Rare neurodegenerative disease","classifications":[181]}],"children":[{"orpha":102013,"name":"Complex hereditary spastic paraplegia","type":"Clinical group"},{"orpha":102012,"name":"Pure hereditary spastic paraplegia","type":"Clinical group"},{"orpha":320335,"name":"Pure or complex hereditary spastic paraplegia","type":"Clinical group"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","X-linked recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.8,"area":"Europe","status":"Validated","source":"ORPHANET_2043954[PMID]_19339254[PMID]_19039240[PMID]_23609960[PMID]_1512613[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":9.6,"area":"Spain","status":"Validated","source":"2043954[PMID]_24603320[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.1,"area":"Portugal","status":"Validated","source":"23609960[PMID]_24603320[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.3,"area":"Sweden","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.1,"area":"Libyan Arab Jamahiriya","status":"Validated","source":"4075075[PMID]_24603320[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.2,"area":"Worldwide","status":"Validated","source":"ORPHANET_24603320[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":5.75,"area":"Tunisia","status":"Validated","source":"19438933[PMID]_24603320[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":7.4,"area":"Norway","status":"Validated","source":"19339254[PMID]_24603320[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.7,"area":"Italy","status":"Validated","source":"1512613[PMID]_3759416[PMID]_7793232[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.4,"area":"Estonia","status":"Validated","source":"19039240[PMID]_24603320[PMID]"}],"phenotypes":null}