{"orpha":171863,"name":"Autosomal dominant spastic paraplegia type 42","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPG42"],"definition":"A pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-171863/","orphanet_url":"https://www.orpha.net/en/disease/detail/171863","names":{"fr":{"name":"Paraplégie spastique autosomique dominante type 42","synonyms":["SPG42"],"definition":"La paraplégie spastique autosomique dominante type 42 est une forme pure de paraplégie spastique héréditaire caractérisée par une paraplégie spastique des extrémités inférieures, lentement progressive, survenant de l'enfance à l'âge adulte. Les patients présentent une démarche spastique, une hyperréflexie des tendons des membres inférieurs, une réponse plantaire d'extension, une faiblesse et une atrophie des muscles des membres inférieurs, et dans certains cas, des pieds creux. Il n'y pas d'anomalie relevée à l'imagerie par résonance magnétique."},"de":{"name":"Spastische Paraplegie, autosomal-dominante, Typ 42","synonyms":["SPG42"],"definition":"Die autosomal-dominante spastische Paraplegie Typ 42 ist eine reine Form der hereditären spastischen Paraplegie, die durch eine langsam fortschreitende spastische Paraplegie der unteren Extremitäten gekennzeichnet ist. Die Krankheit kann sich in der Kindheit bis zum Erwachsenenalter manifestieren. Die Patienten können einen spastischen Gang, erhöhte Sehnenreflexe in den unteren Gliedmaßen, extensorischen Plantarreflex, Schwäche und Atrophie der Muskeln der unteren Gliedmaßen und in seltenen Fällen einen Pes cavus aufweisen. In der Magnetresonanztomographie werden keine Abnormalitäten festgestellt."},"es":{"name":"Paraplejía espástica autosómica dominante tipo 42","definition":"Es una forma pura de paraplejía espástica hereditaria caracterizada por paraplejía espástica lentamente progresiva de las extremidades inferiores con una edad de inicio que va desde la infancia hasta la edad adulta. Los afectados presentan marcha espástica, aumento de reflejos tendinosos en los miembros inferiores, respuesta plantar extensora, debilidad y atrofia de los músculos de las extremidades inferiores y, en casos raros, pies cavos. No se observan anomalías en las imágenes de resonancia magnética."},"it":{"name":"Paraplegia spastica autosomica dominante, tipo 42","synonyms":["SPG42"],"definition":"La paraplegia spastica autosomica dominante tipo 42 è una forma pura di paraplegia spastica ereditaria, caratterizzata da paraplegia spastica a progressione lenta delle estremità inferiori; l'esordio varia tra l'infanzia e l'età adulta. I pazienti presentano andatura spastica, aumento dei riflessi tendinei agli arti inferiori, risposte plantari in estensione, debolezza e atrofia dei muscoli degli arti inferiori e, in rari casi, piede cavo. La risonanza magnetica non evidenzia nessuna anomalia significativa."},"nl":{"name":"Autosomaal dominante spastische paraplegie type 42","synonyms":["SPG42"],"definition":"Een zuivere vorm van erfelijke spastische paraplegie, gekarakteriseerd door traag progressieve spastische paraplegie van onderste ledematen met een aanvangsleeftijd gaande van de kindertijd tot de volwassenheid, en patiënten die zich presenteren met spastische gang, verhoogde peesreflexen in onderste ledematen, afwijkende voetzoolreflexen, spierzwakte en -atrofie van onderste ledematen en, in zeldzame gevallen, pes cavus (holvoet). Er worden geen afwijkingen opgemerkt bij beeldvorming met magnetische resonantie."},"pt":{"name":"Paraplegia espástica autossómica dominante tipo 42","synonyms":["SPG42"]},"pl":{"name":"Autosomalna dominująca paraplegia spastyczna typu 42","synonyms":["SPG42"]},"cs":{"name":"Autozomálně dědičná spastická paraplegie, typ 42","synonyms":["SPG42"]},"uk":{"name":"Аутосомно-домінантна спастична параплегія, тип 42","synonyms":["SPG42"],"definition":"A pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging."},"zh":{"name":"常染色体显性痉挛性截瘫42型","synonyms":["SPG42"],"definition":"常染色体显性遗传性痉挛性截瘫42型是一种单纯的遗传性痉挛性截瘫，其主要临床表现为缓慢进行性下肢痉挛性截瘫，儿童、成人均可发病，患者表现为痉挛步态、下肢腱反射亢进、跖反射伸性、下肢肌无力和肌萎缩萎缩，极少数患者会出现弓形足。MRI尚未发现异常。"},"tr":{"name":"Otozomal dominant spastik parapleji tip 42","synonyms":["SPG42"]}},"xrefs":[{"source":"OMIM","code":"612539","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618087","qualifier":"BTNT","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":"661411419"},{"source":"MONDO","code":"0012928","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567262","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2675528","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":100980,"name":"Autosomal dominant pure spastic paraplegia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SLC33A1","name":"solute carrier family 33 member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19061983[PMID]","hgnc":"95","ensembl":"ENSG00000169359","omim":"603690","loci":["3q25.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"19061983[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19061983[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-04-25","source":"19061983[PMID]_20461110[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:0001347","label":"Hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006895","label":"Lower limb hypertonia","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:0002064","label":"Spastic gait","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002169","label":"Clonus","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:0007210","label":"Lower limb amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100561","label":"Spinal cord lesion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","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},{"hpo":"HP:0001250","label":"Seizure","frequency":"Excluded (0%)","criteria":null}]}}