{"orpha":496689,"name":"Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Kyphoscoliosis-lateral tongue atrophy-HSP syndrome"],"definition":"A rare complex hereditary spastic paraplegia characterized by neonatal to infantile onset of progressive spasticity in the lower limbs, hyperreflexia, tip-toe walking, pes equinus, and delayed motor developmental milestones. Kyphoscoliosis becomes evident in older patients, and most patients show atrophy of the lateral aspects of the tongue. Additional signs may include intellectual disability, language impairment, and moderate upper limb involvement.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-496689/","orphanet_url":"https://www.orpha.net/en/disease/detail/496689","names":{"fr":{"name":"Syndrome de cyphoscoliose-atrophie de la langue-paraplégie spastique héréditaire","definition":"Paraplégie spastique héréditaire complexe rare caractérisée par l'apparition néonatale à infantile d'une spasticité progressive des membres inférieurs, d'une hyperréflexie, d'une démarche sur la pointe des pieds, d'un pes equinus et d'un retard du développement moteur. La cyphoscoliose est manifeste chez les patients plus âgés, et la plupart des patients manifestent une atrophie des bords latéraux de la langue. Les autres signes cliniques peuvent inclure une déficience intellectuelle, des troubles du langage et une atteinte modérée des membres supérieurs."},"de":{"name":"Kyphoskoliose-laterale Zungenatrophie-hereditäre spastische Paraplegie-Syndrom","synonyms":["Kyphoskoliose-laterale Zungenatrophie-HSP-Syndrom"],"definition":"Eine seltene komplexe hereditäre spastische Paraplegie, die durch eine im Neugeborenen- bis Säuglingsalter einsetzende progressive Spastik der unteren Gliedmaßen, Hyperreflexie, Zehenspitzengang, Pes equinus und verzögerte motorische Entwicklungsschritte gekennzeichnet ist. Die Kyphoskoliose wird bei älteren Patienten deutlich, und die meisten Patienten zeigen eine Atrophie der seitlichen Aspekte der Zunge. Weitere Anzeichen können Intelligenzminderung, Sprachstörungen und eine mäßige Beteiligung der oberen Gliedmaßen sein."},"es":{"name":"Síndrome de cifoescoliosis-atrofia lateral de la lengua-paraplejía espástica hereditaria","synonyms":["Síndrome de cifoescoliosis-atrofia lateral de la lengua-PEH"],"definition":"Es una paraplejía espástica hereditaria compleja poco frecuente caracterizada por el inicio neonatal o en el lactante de espasticidad progresiva de las extremidades inferiores, hiperreflexia, marcha de puntillas, pie equino y retraso de los hitos del desarrollo motor. La cifoescoliosis se hace evidente en pacientes de mayor edad y la mayoría de los pacientes muestra atrofia de los márgenes laterales de la lengua. Otros signos adicionales pueden incluir discapacidad intelectual, alteración del lenguaje y afectación moderada de las extremidades superiores."},"it":{"name":"Sindrome cifoscoliosi - atrofia laterale della lingua - paraplegia spastica ereditaria","definition":"Si tratta di una paraplegia spastica ereditaria complessa rara, caratterizzata da spasticità progressiva ad esordio neonatale o infantile, che interessa gli arti inferiori, iperreflessia, andatura sulle punte dei piedi, equinismo e ritardo dello sviluppo motorio. La cifoscoliosi si manifesta successivamente. La maggior parte dei pazienti presenta un'atrofia della parte laterale della lingua. Altri segni clinici sono la disabilità intellettiva, il defciit del linguaggio e l'interessamento moderato degli arti superiori."},"nl":{"name":"Kyfoscoliose - laterale tongatrofie - hereditaire spastische paraplegie-syndroom","synonyms":["Kyfoscoliose - laterale tongatrofie - HSP-syndroom"],"definition":"Een zeldzame complexe hereditaire spastische paraplegie, gekarakteriseerd door neonatale tot infantiele aanvang van progressieve spasticiteit van onderste ledematen, hyperreflexie, tenenlopen, pes equinus (spitsvoet), en vertraagd behalen van motorische ontwikkelingsmijlpalen. Kyfoscoliose wordt duidelijk zichtbaar bij oudere patiënten, en de meeste patiënten vertonen atrofie van de laterale aspecten van tong. Mogelijke bijkomende verschijnselen zijn onder meer intellectuele achterstand, taalstoornis, en matige betrokkenheid van bovenste ledematen."},"pt":{"name":"Síndrome de cifoscoliose-atrofia lateral da língua-paraplegia espástica hereditária"},"pl":{"name":"Zespół kyfoskoliozy - bocznego zaniku języka - dziedziczenj paraplegii spastycznej","synonyms":["Kyphoscoliosis-lateral tongue atrophy-HSP syndrome"]},"cs":{"name":"Syndrom zahrnující kyfoskoliózu, laterální atrofii jazyka a hereditární spastickou paraplegii","synonyms":["Kyphoscoliosis-lateral tongue atrophy-HSP syndrome","Syndrom zahrnující kyfoskoliózu, laterální atrofii jazyka a HSP"]},"uk":{"name":"Синдром кіфосколіозу-бічної атрофії язика-спадкової спастичної параплегії","synonyms":["Кіфосколіоз - латеральна атрофія язика - синдром HSP"],"definition":"A rare complex hereditary spastic paraplegia characterized by neonatal to infantile onset of progressive spasticity in the lower limbs, hyperreflexia, tip-toe walking, pes equinus, and delayed motor developmental milestones. Kyphoscoliosis becomes evident in older patients, and most patients show atrophy of the lateral aspects of the tongue. Additional signs may include intellectual disability, language impairment, and moderate upper limb involvement."},"zh":{"name":"脊柱侧凸-舌单侧萎缩-遗传性痉挛性截瘫综合征","synonyms":["Kyphoscoliosis-lateral tongue atrophy-HSP syndrome"],"definition":"一种罕见的复杂遗传性痉挛性截瘫，其特点是新生儿至婴儿期开始出现下肢进行性痉挛，反射亢进，走路踮脚，马蹄样足，运动发育指标延迟。脊柱后凸侧弯在老年患者中变得很明显，大多数患者表现为舌侧向萎缩。其他症状包括智力障碍、语言障碍和中度上肢受累。"},"tr":{"name":"Kifoskolyoz-lateral dil atrofisi-kalıtsal spastik parapleji sendromu","synonyms":["Kifoskolyoz-lateral dil atrofisi-HSP sendromu"]}},"xrefs":[{"source":"ICD-10","code":"G11.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0044648","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5567452","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":100981,"name":"Autosomal recessive complex spastic paraplegia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"KY","name":"kyphoscoliosis peptidase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28488683[PMID]","hgnc":"26576","ensembl":"ENSG00000174611","omim":"605739","loci":["3q22.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28488683[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":12.0,"area":"Worldwide","status":"Validated","source":"28488683[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-11-26","source":"28488683[PMID]","terms":[{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009046","label":"Difficulty running","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003698","label":"Difficulty standing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0007210","label":"Lower limb amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002395","label":"Lower limb hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002061","label":"Lower limb spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012531","label":"Pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007020","label":"Progressive spastic paraplegia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0008997","label":"Proximal muscle weakness in upper limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030051","label":"Tip-toe gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012473","label":"Tongue atrophy","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0009129","label":"Upper limb amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006380","label":"Knee flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040081","label":"Abnormal circulating creatine kinase concentration","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Excluded (0%)","criteria":null}]}}