{"orpha":101004,"name":"Autosomal recessive spastic paraplegia type 24","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPG24"],"definition":"A very rare, pure form of spastic paraplegia characterized by an onset in infancy of lower limb spasticity associated with gait disturbances, scissor gait, tiptoe walking, clonus and increased deep tendon reflexes. Mild upper limb involvement may occasionally also be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-101004/","orphanet_url":"https://www.orpha.net/en/disease/detail/101004","names":{"fr":{"name":"Paraplégie spastique autosomique récessive type 24","synonyms":["SPG24"],"definition":"Forme pure, très rare, de paraplégie spastique caractérisée par l'apparition, pendant la petite enfance, d'une spasticité des membres inférieurs associée à des troubles de la marche, une démarche « en ciseaux », une marche digitigrade, un clonus et une augmentation des réflexes tendineux profonds. Dans certains cas, une légère atteinte des membres supérieurs peut aussi être associée."},"de":{"name":"Spastische Paraplegie, autosomal-rezessive, Typ 24","synonyms":["SPG24"],"definition":"Eine sehr seltene, reine Form der spastischen Paraplegie, die sich durch eine im Säuglingsalter einsetzende Spastik der unteren Gliedmaßen auszeichnet, die mit Gangstörungen, Scherengang, Zehenspitzengang, Klonus und erhöhten tiefen Sehnenreflexen einhergeht. Gelegentlich können auch die oberen Gliedmaßen leicht betroffen sein."},"es":{"name":"Paraplejía espástica autosómica recesiva tipo 24","synonyms":["SPG24"],"definition":"Es una forma pura muy poco frecuente de paraplejía espástica caracterizada por espasticidad en las extremidades inferiores de inicio en la lactancia, asociada a alteraciones de la marcha, marcha en tijera y de puntillas, clonus y aumento de los reflejos osteotendinosos. Ocasionalmente también puede asociar leve afectación de las extremidades superiores."},"it":{"name":"Paraplegia spastica autosomica recessiva tipo 24","synonyms":["SPG24"],"definition":"È una forma pura molto rara di paraplegia spastica, che esordisce nella prima infanzia con spasticità degli arti inferiori associata ad anomalie della deambulazione, andatura con ''gambe a forbice'', cammino sulla punta di piedi, clonie e aumento dei riflessi tendinei profondi. Occasionalmente si associa ad un lieve coinvolgimento degli arti superiori."},"nl":{"name":"Autosomaal recessieve spastische paraplegie type 24","synonyms":["SPG24"],"definition":"Een zeer zeldzame, zuivere vorm van spastische paraplegie, gekarakteriseerd door aanvang in de zuigelingentijd van spasticiteit van onderste ledematen geassocieerd met gangstoornissen, schaargang, tenenlopen, clonus en verhoogde diepe peesreflexen. Occasioneel kan ook milde betrokkenheid van bovenste ledematen geassocieerd zijn."},"pt":{"name":"Paraplegia espástica autossómica recessiva tipo 24","synonyms":["SPG24"]},"pl":{"name":"Autosomalna recesywna paraplegia spastyczna typu 24","synonyms":["SPG24"]},"cs":{"name":"Autozomálně recesivní spastická paraplegie, typ 24","synonyms":["SPG24"]},"uk":{"name":"Аутосомно-рецесивна спастична параплегія, тип 24","synonyms":["SPG24"],"definition":"A very rare, pure form of spastic paraplegia characterized by an onset in infancy of lower limb spasticity associated with gait disturbances, scissor gait, tiptoe walking, clonus and increased deep tendon reflexes. Mild upper limb involvement may occasionally also be associated."},"zh":{"name":"常染色体隐性遗传痉挛性截瘫24型","synonyms":["SPG24"],"definition":"常染色体隐性遗传性痉挛性截瘫24型是一种非常罕见的单纯形式的痉挛性截瘫，其特征是在婴儿期出现下肢痉挛，伴随步态紊乱、剪刀式步态、脚尖行走、阵挛和深肌腱反射增加。轻微的上肢受累有时也可能与此相关。"},"tr":{"name":"Otozomal resesif spastik parapleji tip 24","synonyms":["SPG24"]}},"xrefs":[{"source":"OMIM","code":"607584","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":"228673587"},{"source":"MONDO","code":"0011862","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564375","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1843569","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9296","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":100982,"name":"Autosomal recessive pure spastic paraplegia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SPG24","name":"spastic paraplegia 24 (autosomal recessive)","gene_type":"Disorder-associated locus","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"22993","ensembl":null,"omim":null,"loci":["13q14"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"12499481[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_12499481[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-04-25","source":"12499481[PMID]","terms":[{"hpo":"HP:0002169","label":"Clonus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012407","label":"Scissor gait","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001258","label":"Spastic paraplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030051","label":"Tip-toe gait","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null}]}}