{"orpha":100984,"name":"Autosomal dominant spastic paraplegia type 3","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal dominant spastic paraplegia type 3A","SPG3A","Strümpell disease"],"definition":"A rare, pure or complex form of hereditary spastic paraplegia, with variable phenotype, typically characterized by childhood-onset of minimally progressive, bilateral, mainly symmetric lower limb spasticity and weakness, associated with <i>pes cavus</i>, scoliosis, sphincter disturbances and/or urinary bladder hyperactivity. Rare additional associated manifestations may include mild intellectual disability, axonal motor neuropathy, and seizures.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-100984/","orphanet_url":"https://www.orpha.net/en/disease/detail/100984","names":{"fr":{"name":"Paraplégie spastique autosomique dominante type 3","synonyms":["Maladie de Strümpell","Paraplégie spastique autosomique dominante type 3A","SPG3A"],"definition":"Forme pure ou complexe rare de paraplégie spastique héréditaire, de phénotype variable et à début infantile, généralement caractérisée par une faiblesse et une spasticité peu progressives bilatérales et principalement symétriques des membres inférieurs, associée à des pieds creux, une scoliose, un dysfonctionnement des sphincters et/ou une vessie hyperactive. Dans de rares cas, d'autres manifestations sont associées, à savoir une légère déficience intellectuelle, une neuropathie axonale motrice et des crises convulsives."},"de":{"name":"Spastische Paraplegie, autosomal-dominante, Typ 3","synonyms":["SPG3A","Strümpell-Krankheit"],"definition":"Eine reine oder komplexe Form der hereditären spastischen Paraplegie mit variablem Phänotyp, typischerweise gekennzeichnet durch das Auftreten einer minimal progressiven, bilateralen, hauptsächlich symmetrischen Spastik und Schwäche der unteren Gliedmaßen in der Kindheit, verbunden mit <i>Pes cavus</i>, Skoliose, Sphinkterstörungen und/oder Hyperaktivität der Harnblase. Seltene zusätzliche assoziierte Manifestationen können eine leichte Intelligenzminderung, axonale motorische Neuropathie und Krampfanfälle umfassen."},"es":{"name":"Paraplejía espástica autosómica dominante tipo 3","synonyms":["Enfermedad de Strümpell","Paraplejía espástica autosómica dominante tipo 3A","SPG3A"],"definition":"Es una forma poco frecuente, pura o compleja, de paraplejía espástica hereditaria, con fenotipo variable, caracterizada típicamente por la aparición en la infancia de espasticidad y debilidad de las extremidades inferiores mínimamente progresiva, bilateral y principalmente simétrica, asociada a <i>pes cavus</i>, escoliosis, alteraciones del esfínter y/o hiperactividad de la vejiga urinaria. Otras manifestaciones infrecuentes asociadas pueden incluir discapacidad intelectual leve, neuropatía motora axonal y crisis."},"it":{"name":"Paraplegia spastica autosomica dominante tipo 3","synonyms":["Malattia di Strümpell","Paraplegia spastica autosomica dominante tipo 3A","SPG3A"],"definition":"Si tratta di una forma rara, pura o complessa, di paraplegia spastica ereditaria, con fenotipo variabile, che di solito esordisce durante l'infanzia con spasticità e debolezza agli arti inferiori minimamente progressive, bilaterali, per lo più simmetriche, associate a piede cavo, scoliosi, disfunzioni sfinteriche e/o iperattività della vescica. Di rado, i pazienti presentano anche lieve disabilità intellettiva, neuropatia motoria assonale e crisi epilettiche."},"nl":{"name":"Autosomaal dominante spastische paraplegie type 3","synonyms":["Autosomaal dominante spastische paraplegie type 3A","SPG3A","Ziekte van Strümpell"],"definition":"Een zeldzame, zuivere of complexe vorm van hereditaire spastische paraplegie met variabel fenotype, doorgaans gekenmerkt door aanvang in de kindertijd van minimaal progressieve, bilaterale, voornamelijk symmetrische spasticiteit en zwakte van onderste ledematen, geassocieerd met <i>pes cavus</i>, scoliose, stoornissen van sfincter en/of hyperactiviteit van urineblaas. Mogelijke zeldzame bijkomende geassocieerde manifestaties zijn onder meer milde intellectuele achterstand, axonale motorische neuropathie, en insulten."},"pt":{"name":"Paraplegia espástica autossómica dominante tipo 3","synonyms":["Doença Strümpell","SPG3A"],"definition":"Forma rara, pura ou complexa de paraplegia espástica hereditária, com fenótipo variável, habitualmente caracterizada por espasticidade e fraqueza com progressão mínima, bilateral e principalmente simétrica dos membros inferiores com início na infância, associada a pes cavus, escoliose, distúrbios do esfíncter e/ou hiperatividade da bexiga. Podem ocorrer manifestações adicionais raras que incluem perturbação ligeira do desenvolvimento intelectual, neuropatia motora axonal e convulsões."},"pl":{"name":"Autosomalna dominująca paraplegia spastyczna typu 3","synonyms":["Choroba Strümpella"]},"cs":{"name":"Autozomálně dominantní spastická paraplegie, typ 3","synonyms":["Strümpellova choroba"]},"uk":{"name":"Аутосомно-домінантна спастична параплегія, тип 3","synonyms":["Аутосомно-домінантна спастична параплегія, тип 3А","SPG3A","Хвороба Штрюмпеля"],"definition":"A rare, pure or complex form of hereditary spastic paraplegia, with variable phenotype, typically characterized by childhood-onset of minimally progressive, bilateral, mainly symmetric lower limb spasticity and weakness, associated with <i>pes cavus</i>, scoliosis, sphincter disturbances and/or urinary bladder hyperactivity. Rare additional associated manifestations may include mild intellectual disability, axonal motor neuropathy, and seizures."},"zh":{"name":"常染色体显性遗传痉挛性截瘫3型","synonyms":["Strümpell病"],"definition":"常染色体显性遗传性痉挛性截瘫3型是遗传性痉挛性截瘫的一种罕见的、单纯的或复杂的亚型，表型差异很大，典型的特征是儿童期起病的轻度进行性、双侧、主要是对称性的下肢痉挛和虚弱，伴有高弓足、振动感减弱、括约肌功能障碍和/或膀胱过度活动。其他相关表现可能包括脊柱侧弯、轻度智力障碍、视神经萎缩、轴突运动神经病变和/或远端肌萎缩。"},"tr":{"name":"Otozomal dominant spastik parapleji tip 3","synonyms":["Strümpell hastalığı"]}},"xrefs":[{"source":"OMIM","code":"182600","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":"39845134"},{"source":"MONDO","code":"8437","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536864","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931355","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5041","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":"ATL1","name":"atlastin GTPase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11685207[PMID]","hgnc":"11231","ensembl":"ENSG00000198513","omim":"606439","loci":["14q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.14,"area":"Portugal","status":"Validated","source":"23609960[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"20862796[PMID]_8649538[PMID]_23609960[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-03-01","source":"17502470[PMID]","terms":[{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009053","label":"Distal lower limb muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002395","label":"Lower limb hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002061","label":"Lower limb spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011448","label":"Ankle clonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008944","label":"Distal lower limb amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002064","label":"Spastic gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002495","label":"Impaired vibratory sensation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030051","label":"Tip-toe gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000012","label":"Urinary urgency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002067","label":"Bradykinesia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002359","label":"Frequent falls","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100963","label":"Hyperesthesia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006895","label":"Lower limb hypertonia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Very rare (<4-1%)","criteria":null}]}}