{"orpha":293168,"name":"Infantile-onset ascending hereditary spastic paralysis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["IAHSP"],"definition":"Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-293168/","orphanet_url":"https://www.orpha.net/en/disease/detail/293168","names":{"fr":{"name":"Paralysie spastique infantile ascendante héréditaire","synonyms":["IAHSP"],"definition":"La paralysie spastique infantile ascendante héréditaire (IAHSP) est un trouble moteur et neuronal très rare, caractérisé par une spasticité sévère des membres inférieurs en début de vie, une progression de la spasticité vers les membres supérieurs à la fin de l'enfance, et une dysarthrie."},"de":{"name":"Hereditäre Spastische Paralyse, aufsteigende, des frühen Kindesalters","synonyms":["IAHSP"],"definition":"Die Aufsteigende hereditäre spastische Paralyse des frühen Kindesalters (IAHSP) ist eine sehr seltene Motoneuron-Krankheit mit schwerer Spastizität der unteren Gliedmaßen schon im frühen Leben, Ausbreitung der Spastik auf die oberen Gliedmaßen im späten Kindesalter und Dysarthrie."},"es":{"name":"Parálisis espástica ascendente hereditaria de inicio en el lactante","synonyms":["IAHSP"],"definition":"La parálisis espástica hereditaria ascendente de inicio en la infancia (IAHSP) es una enfermedad muy rara de las neuronas motoras caracterizada por una grave espasticidad de las extremidades inferiores, que evoluciona con espasticidad a las extremidades superiores al final de la infancia y disartria."},"it":{"name":"Paralisi spastica ascendente ereditaria a esordio infantile","synonyms":["IAHSP"],"definition":"La paralisi spastica ascendente ereditaria ad esordio infantile (IAHSP) è una malattia dei motoneuroni molto rara, caratterizzata da grave spasticità agli arti inferiori in età precoce, progressione della spasticità agli arti superiori nella tarda infanzia e disartria."},"nl":{"name":"Opstijgende erfelijke spastische paralyse met infantiele aanvang","synonyms":["IAHSP"],"definition":"Toenemende erfelijke spastische paralyse met aanvang tijdens de vroege kindertijd (IAHSP) is een zeer zeldzame motorneuronziekte die wordt gekarakteriseerd door ernstige spasticiteit van de onderste ledematen die reeds vroeg aanvangt en later in de kindertijd evolueert naar spasticiteit in de bovenste ledematen, alsook door dysartrie."},"pt":{"name":"Paralisia espástica ascendente hereditária de início na infância","synonyms":["IAHSP"]},"pl":{"name":"Dziedziczne wstępujące porażenie spastyczne o początku w wieku niemowlęcym","synonyms":["IAHSP"]},"cs":{"name":"Vzestupná dědičná spastická paralýza s nástupem v kojeneckém věku","synonyms":["IAHSP"]},"uk":{"name":"Висхідний спадковий спастичний параліч, що починається в дитинстві","synonyms":["IAHSP"],"definition":"Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria."},"zh":{"name":"婴儿起病的上行性遗传性痉挛性瘫痪","synonyms":["婴儿起病上行性遗传性痉挛性瘫痪"],"definition":"婴儿期发病上升性遗传痉挛性截瘫（IAHSP）是一种非常罕见的运动神经元病变，其特点是早期下肢严重痉挛，儿童晚期痉挛向上肢发展，以及构音障碍。"},"tr":{"name":"İnfantil-başlangıçlı artan kalıtsal spastik paraliz","synonyms":["IAHSP"]}},"xrefs":[{"source":"OMIM","code":"607225","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G12.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011797","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537217","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931441","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4914","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98505,"name":"Genetic motor neuron disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ALS2","name":"alsin Rho guanine nucleotide exchange factor ALS2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24315819[PMID]","hgnc":"443","ensembl":"ENSG00000003393","omim":"606352","loci":["2q33.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":17.0,"area":"Worldwide","status":"Validated","source":"12145748[PMID]_12919135[PMID]_12601111[PMID]_12509863[PMID]_18394004[PMID]_16718699[PMID]_18810511[PMID]_18523452[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002425","label":"Anarthria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005216","label":"Impaired mastication","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001258","label":"Spastic paraplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002510","label":"Spastic tetraplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002445","label":"Tetraplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000496","label":"Abnormality of eye movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002193","label":"Pseudobulbar behavioral symptoms","frequency":"Frequent (79-30%)","criteria":null}]}}