{"orpha":100991,"name":"Autosomal dominant spastic paraplegia type 10","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPG10"],"definition":"A rare, hereditary spastic paraplegia that can present as either a pure or complex phenotype. The pure form is characterized by lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence. The complex form is characterized by the association with additional manifestations including peripheral neuropathy with upper limb muscle atrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-100991/","orphanet_url":"https://www.orpha.net/en/disease/detail/100991","names":{"fr":{"name":"Paraplégie spastique autosomique dominante type 10","synonyms":["SPG10"],"definition":"Paraplégie spastique héréditaire rare pouvant se présenter sous la forme d'un phénotype pur ou complexe. La forme pure, qui se manifeste pendant l'enfance ou l'adolescence, est caractérisée par une spasticité des membres inférieurs, une hyperréflexie et un signe de Babinski. La forme complexe est caractérisée par les signes susmentionnés en association avec d'autres manifestations dont une neuropathie périphérique avec amyotrophie des membres supérieurs, une déficience intellectuelle modérée et un parkinsonisme. Des cas de surdité et de rétinite pigmentaire ont été rapportés."},"de":{"name":"Spastische Paraplegie, autosomal-dominante, Typ 10","synonyms":["SPG10"],"definition":"Eine seltene Form der hereditären spastischen Paraplegie, die entweder als reiner oder komplexer Phänotyp auftreten kann. Die reine Form ist durch Spastizität der unteren Gliedmaßen, Hyperreflexie und extensorische Plantarreflexe gekennzeichnet und tritt im Kindes- oder Jugendalter auf. Die komplexe Form ist durch die Assoziation mit zusätzlichen Manifestationen wie peripherer Neuropathie mit Muskelatrophie der oberen Gliedmaßen, moderater Intelligenzminderung und Parkinsonismus gekennzeichnet. Es wurde auch über Taubheit und Retinitis pigmentosa berichtet."},"es":{"name":"Paraplejía espástica autosómica dominante tipo 10","synonyms":["SPG10"],"definition":"Es una paraplejía espástica hereditaria poco frecuente que puede presentarse como fenotipo puro o complejo. La forma pura se caracteriza por espasticidad de los miembros inferiores, hiperreflexia y respuestas plantares extensoras, y debuta en la infancia o la adolescencia. La forma compleja se caracteriza por la asociación con manifestaciones adicionales que incluyen neuropatía periférica con atrofia muscular de las extremidades superiores, discapacidad intelectual moderada y parkinsonismo. También se ha descrito sordera y retinosis pigmentaria."},"it":{"name":"Paraplegia spastica autosomica dominante, tipo 10","synonyms":["SPG10"],"definition":"Si tratta di una paraplegia spastica ereditaria rara, che si manifesta con un fenotipo puro o complesso. La forma pura è caratterizzata da spasticità agli arti inferiori, iperreflessia e risposte plantari in estensione, che esordiscono durante l'infanzia o l'adolescenza. La forma complessa è caratterizzata anche da altri sintomi, che comprendono la neuropatia periferica con atrofia dei muscoli degli arti superiori, la disabilità intellettiva moderata e il parkinsonismo. I pazienti possono presentare anche sordità e retinite pigmentosa."},"nl":{"name":"Autosomaal dominante spastische paraplegie type 10","synonyms":["SPG10"],"definition":"Een zeldzame hereditaire spastische paraplegie die zich kan presenteren als een zuiver of als een complex fenotype. De zuivere vorm wordt gekenmerkt door spasticiteit van onderste ledematen, hyperreflexie en pathologische voetzoolreflexen, met presentatie in de kindertijd of adolescentie. De complexe vorm wordt gekenmerkt door associatie van bijkomende manifestaties waaronder perifere neuropathie met spieratrofie van bovenste ledematen, matige intellectuele achterstand, en parkinsonisme. Doofheid en retinitis pigmentosa werden ook reeds gerapporteerd."},"pt":{"name":"Paraplegia espástica autossómica dominante tipo 10","synonyms":["SPG10"],"definition":"Paraplegia espástica rara hereditária que pode apresentar-se com um fenótipo puro ou complexo. A forma pura é caracterizada por espasticidade dos membros inferiores, hiperreflexia e respostas plantares extensoras, surgindo na infância ou adolescência. A forma complexa é caracterizada pela associação com manifestações clínicas adicionais, incluindo neuropatia periférica com atrofia muscular dos membros superiores, perturbação moderada do desenvolvimento intelectual e parkinsonismo. Foram relatados casos clínicos com surdez e retinite pigmentar."},"pl":{"name":"Autosomalna dominująca paraplegia spastyczna typu 10","synonyms":["SPG10"]},"cs":{"name":"Autozomálně dominantní spastická paraplegie, typ 10","synonyms":["SPG10"]},"uk":{"name":"Аутосомно-домінантна спастична параплегія, тип 10","synonyms":["SPG10"],"definition":"A rare, hereditary spastic paraplegia that can present as either a pure or complex phenotype. The pure form is characterized by lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence. The complex form is characterized by the association with additional manifestations including peripheral neuropathy with upper limb muscle atrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa have also been reported."},"zh":{"name":"常染色体显性遗传痉挛性截瘫10型","synonyms":["SPG10"],"definition":"常染色体显性遗传性痉挛性截瘫10型是一种罕见的遗传性痉挛性截瘫，既可以表现为单纯形式的痉挛性截瘫，伴有下肢痉挛、反射亢进和足底伸肌反应，表现在儿童或青少年时期，也可以表现为与其他表现相关的复杂表型，包括伴有上肢肌萎缩的周围神经病、中度智力残疾和帕金森氏症。报告1例耳聋和视网膜色素变性。"},"tr":{"name":"Otozomal dominant spastik parapleji tip 10","synonyms":["SPG10"]}},"xrefs":[{"source":"OMIM","code":"604187","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8B44.00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"217113223"},{"source":"MONDO","code":"0011408","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537482","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1858712","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9590","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":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"KIF5A","name":"kinesin family member 5A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21623771[PMID]","hgnc":"6323","ensembl":"ENSG00000155980","omim":"602821","loci":["12q13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"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":"2018-12-21","source":"20301682[PMID]_18853458[PMID]_10441583[PMID]_8649538[PMID]_15452312[PMID]_16489470[PMID]_21623771[PMID]_25352184[PMID]_18853458[PMID]_21623771[PMID]_25008398[PMID]","terms":[{"hpo":"HP:0002061","label":"Lower limb spasticity","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0008944","label":"Distal lower limb amyotrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002395","label":"Lower limb hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002936","label":"Distal sensory impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007350","label":"Hyperreflexia in upper limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006886","label":"Impaired distal vibration sensation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008969","label":"Leg muscle stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003477","label":"Peripheral axonal neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000510","label":"Rod-cone dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031958","label":"Spastic paraparetic gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005340","label":"Spastic/hyperactive bladder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002493","label":"Upper motor neuron dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000012","label":"Urinary urgency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005679","label":"Dupuytren contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007141","label":"Sensorimotor neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009129","label":"Upper limb amyotrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002619","label":"Varicose veins","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011448","label":"Ankle clonus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006986","label":"Upper limb spasticity","frequency":"Very rare (<4-1%)","criteria":null}]}}