{"orpha":101010,"name":"Autosomal spastic paraplegia type 30","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPG30"],"definition":"A rare, pure or complex form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, unsteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-101010/","orphanet_url":"https://www.orpha.net/en/disease/detail/101010","names":{"fr":{"name":"Paraplégie spastique autosomique type 30","synonyms":["SPG30"],"definition":"Forme rare, pure ou complexe de paraplégie spastique héréditaire caractérisée soit par un phénotype pur de paraplégie spastique, se manifestant généralement au cours de la première ou de la deuxième décennie de vie, par une spasticité des membres inférieurs, une démarche spastique instable, une hyperréflexie et un signe de Babinski positif, soit par un phénotype complexe se manifestant, outre les signes précités, par une amyotrophie distale, des saccades oculaires, une ataxie cérébelleuse légère et une neuropathie axonale distale légère."},"de":{"name":"Spastische Paraplegie, autosomale, Typ 30","synonyms":["SPG30"],"definition":"Eine reine oder komplexe Form der hereditären spastischen Paraplegie, die entweder durch einen reinen Phänotyp gekennzeichnet ist, der sich normalerweise im ersten oder zweiten Lebensjahrzehnt durch eine Spastik der unteren Gliedmaßen, einen instabilen spastischen Gang, Hyperreflexie und ein positives Babinski-Zeichen manifestiert, oder durch einen komplexen Phänotyp, der zusätzlich zu den oben genannten Symptomen eine distale Amyotrophie, Augensakkaden, eine leichte zerebelläre Ataxie und eine leichte distale axonale Neuropathie aufweist."},"es":{"name":"Paraplejía espástica autosómica tipo 30","synonyms":["SPG30"],"definition":"Es una forma poco frecuente, pura o compleja, de paraplejía espástica hereditaria caracterizada por un fenotipo de paraplejía espástica pura, que suele presentarse en la primera o segunda década de la vida, con extremidades inferiores espásticas, marcha espástica inestable, hiperreflexia y respuestas plantares extensoras, o como un fenotipo complicado con las manifestaciones adicionales de atrofia distal, movimientos oculares sacádicos, ataxia cerebelosa leve y neuropatía axonal leve."},"it":{"name":"Paraplegia spastica autosomica, tipo 30","synonyms":["SPG30"],"definition":"Si tratta di una forma rara, pura o complessa, di paraplegia spastica ereditaria, caratterizzata dal fenotipo della paraplegia spastica pura, che di solito esordisce nella prima o nella seconda decade di vita con spasticità degli arti inferiori, andatura spastica instabile, iperreflessia e risposte plantari in estensione, oppure da un fenotipo complesso caratterizzato da ulteriori segni clinici, che comprendono l'atrofia distale, i movimenti oculari saccadici, l'atassia cerebellare lieve e la neuropatia assonale distale lieve."},"nl":{"name":"Autosomale spastische paraplegie type 30","synonyms":["SPG30"],"definition":"Een zeldzame, zuivere of complexe vorm van hereditaire spastische paraplegie, gekenmerkt door ofwel een fenotype van zuivere spastische paraplegie, dat zich meestal presenteert in het eerste of tweede levensdecennium met spasticiteit van onderste ledematen, onvaste spastische gang, hyperreflexie en pathologische voetzoolreflexen, ofwel door een gecompliceerd fenotype met distale atrofie, saccadische oogbewegingen, milde cerebellaire ataxie en milde, distale, axonale neuropathie als bijkomende manifestaties."},"pt":{"name":"Paraplegia espástica autossómica tipo 30","synonyms":["SPG30"],"definition":"Forma rara, pura ou complexa de paraplegia espástica hereditária caracterizada por um fenótipo puro de paraplegia espástica, habitualmente na primeira ou segunda década de vida, com extremidades inferiores espásticas, marcha espástica instável, hiperreflexia e respostas plantares extensoras, ou através de um fenótipo agravado com manifestações adicionais de atrofia distal, movimentos oculares sacádicos, ataxia cerebelar leve e neuropatia axonal distal leve."},"pl":{"name":"Autosomalna recesywna paraplegia spastyczna typu 30","synonyms":["SPG30"]},"cs":{"name":"Autozomálně dominantní spastická paraplegie, typ 30","synonyms":["SPG30"]},"uk":{"name":"Аутосомна спастична параплегія, тип 30","synonyms":["SPG30"],"definition":"A rare, pure or complex form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, unsteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy."},"zh":{"name":"常染色体遗传痉挛性截瘫30型","synonyms":["SPG30"],"definition":"常染色体痉挛型截瘫30型是一种遗传性痉挛型截瘫，其特征是要么表现为单纯痉挛型截瘫，通常出现在出生后的第一或第二个十年，伴有下肢痉挛、步态不稳、反射亢进和足底伸肌反应；要么表现为复杂的表型，伴有远端消瘦、眼球跳动、轻度小脑性共济失调和轻度的远端轴索神经病。"},"tr":{"name":"Otozomal spastik parapleji tip 30","synonyms":["SPG30"]}},"xrefs":[{"source":"OMIM","code":"610357","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8B44.0Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0012476","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5235139","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]},{"orpha":320346,"name":"Pure or complex autosomal recessive spastic paraplegia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"KIF1A","name":"kinesin family member 1A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22258533[PMID]_26410750[PMID]","hgnc":"888","ensembl":"ENSG00000130294","omim":"601255","loci":["2q37.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"22258533[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22258533[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-02-09","source":"16434418[PMID]_22258533[PMID]","terms":[{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008969","label":"Leg muscle stiffness","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: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:0002317","label":"Unsteady gait","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000570","label":"Abnormal saccadic eye movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003693","label":"Distal amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002936","label":"Distal sensory impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012407","label":"Scissor gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007141","label":"Sensorimotor neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003474","label":"Somatic sensory dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100275","label":"Diffuse cerebellar atrophy","frequency":"Occasional (29-5%)","criteria":null}]}}