{"orpha":447753,"name":"Autosomal dominant spastic paraplegia type 9A","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AD-SPG9A","Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome","Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome"],"definition":"A rare complex hereditary spastic paraplegia characterized by juvenile to adult onset of slowly progressive spasticity mainly affecting the lower limbs, associated with spastic dysarthria and motor neuropathy. Additional manifestations include congenital bilateral cataract, gastroesophageal reflux, persistent vomiting, mild cerebellar signs, pes cavus, and occasionally short stature, among others.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-447753/","orphanet_url":"https://www.orpha.net/en/disease/detail/447753","names":{"fr":{"name":"Paraplégie spastique autosomique dominante type 9A","synonyms":["AD-SPG9A","Syndrome de cataracte-neuropathie motrice-petite taille-anomalies squelettiques","Syndrome de paraparésie spastique-amyopathie-cataracte-reflux gastro-oesophagien"],"definition":"Paraplégie spastique héréditaire complexe rare caractérisée par l'apparition, entre l'âge juvénile et l'âge adulte, d'une spasticité lentement progressive affectant principalement les membres inférieurs, associée à une dysarthrie spastique et à une neuropathie motrice. Les autres signes cliniques sont entre autres la cataracte bilatérale congénitale, le reflux gastro-oesophagien, les vomissements persistants, les atteintes cérébelleuses légères, le pied creux et plus rarement une petite taille."},"de":{"name":"Spastische Paraplegie, autosomal-dominante, Typ 9A","synonyms":["AD-SPG9A","Katarakte-motorische Neuropathie-Kleinwuchs-Skelettanomalien-Syndrom","Spastische Paraparese-Amyopathie-Katarakte-gastroösophagealer Reflux-Syndrom"],"definition":"Eine komplexe hereditäre spastische Paraplegie, die durch eine im Jugend- bis Erwachsenenalter einsetzende, langsam fortschreitende Spastik gekennzeichnet ist, die hauptsächlich die unteren Gliedmaßen betrifft und mit spastischer Dysarthrie und motorischer Neuropathie einhergeht. Zu den weiteren Erscheinungsformen gehören u. a. kongenitale bilaterale Katarakt, gastroösophagealer Reflux, anhaltendes Erbrechen, leichte Kleinhirnzeichen, Pes cavus und gelegentlich Kleinwuchs."},"es":{"name":"Paraplejía espástica autosómica dominante tipo 9A","synonyms":["AD-SPG9A","Síndrome de cataratas-neuropatía motora-talla baja-anomalías esqueléticas","Síndrome de paraplejía espástica-amiopatía-cataratas-reflujo gastroesofágico"],"definition":"Es una paraplejía espástica hereditaria compleja poco frecuente caracterizada por espasticidad lentamente progresiva de inicio juvenil o en la edad adulta que afecta principalmente a las extremidades inferiores, asociada a disartria espástica y neuropatía motora. Otras manifestaciones adicionales incluyen catarata congénita bilateral, reflujo gastroesofágico, vómitos persistentes, signos cerebelosos leves, pie cavo y ocasionalmente talla baja, entre otras."},"it":{"name":"Paraplegia spastica autosomica dominante tipo 9A","synonyms":["AD-SPG9A"],"definition":"Si tratta di una paraplegia spastica complessa ereditaria rara, che esordisce in giovane età o nell'età adulta con spasticità a progressione lenta che interessa per lo più gli arti inferiori, associata a disartria spastica e neuropatia motoria. Altri segni clinici sono la cataratta congenita bilaterale, il reflusso gastroesofageo, il vomito persistente, i sintomi cerebellari lievi, il piede cavo e, occasionalmente, la bassa statura."},"nl":{"name":"Autosomaal dominante spastische paraplegie type 9A","synonyms":["Cataracten - motorische neuropathie - kleine gestalte - skeletanomalieën-syndroom","Spastische paraparese - amyopathie - cataracten - gastro-oesofageale reflux-syndroom","AD-SPG9A"],"definition":"Een zeldzame complexe hereditaire spastische paraplegie, gekarakteriseerd door juveniele tot volwassen aanvang van traag progressieve spasticiteit die vooral onderste ledematen treft, geassocieerd met spastische dysartrie en motorische neuropathie. Bijkomende manifestaties zijn onder meer congenitaal bilateraal cataract, gastro-oesofageale reflux, persisterend braken, milde cerebellaire tekenen, pes cavus, en occasioneel kleine gestalte."},"pt":{"name":"Paraplegia espástica autossómica dominante tipo 9A","synonyms":["AD-SPG9A"]},"pl":{"name":"Autosomalna dominująca złożona paraplegia spastyczna typu 9A","synonyms":["AD-SPG9A","Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome","Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome"]},"cs":{"name":"Autozomálně dominantní spastická paraplegie, typ 9A","synonyms":["AD-SPG9A"]},"uk":{"name":"Аутосомно-домінантна спастична параплегія, тип 9А","synonyms":["AD-SPG9A","Синдром катаракти - моторної нейропатії - низькорослості - скелетних аномалій","Спастичний парапарез - аміопатія - катаракта - гастроезофагеальний рефлюксний синдром"],"definition":"A rare complex hereditary spastic paraplegia characterized by juvenile to adult onset of slowly progressive spasticity mainly affecting the lower limbs, associated with spastic dysarthria and motor neuropathy. Additional manifestations include congenital bilateral cataract, gastroesophageal reflux, persistent vomiting, mild cerebellar signs, pes cavus, and occasionally short stature, among others."},"zh":{"name":"常染色体显性痉挛性截瘫9A型","synonyms":["痉挛性轻瘫-肌病-白内障-胃食管反流综合征"],"definition":"一种罕见的复杂性遗传性痉挛性截瘫，其特征是少年至成年期开始缓慢进行性痉挛，主要影响下肢，伴有痉挛性构音障碍和运动神经病。其他表现包括先天性双眼白内障，胃食管反流，持续性呕吐，轻度小脑征，弓足，身材矮小等。"},"tr":{"name":"Otozomal dominant spastik parapleji tip 9A","synonyms":["AD-SPG9A","Katarakt-motor nöropati-kısa boy-iskelet anomalileri sendromu","Spastik paraparezi-amyopati-katarakt-gastroözofageal reflü sendromu"]}},"xrefs":[{"source":"OMIM","code":"601162","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":"attributed","validated":true},{"source":"MONDO","code":"0011006","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5568978","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9583","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":100979,"name":"Autosomal dominant complex spastic paraplegia","classifications":[156,181]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[{"symbol":"ALDH18A1","name":"aldehyde dehydrogenase 18 family member A1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26026163[PMID]_26297558[PMID]","hgnc":"9722","ensembl":"ENSG00000059573","omim":"138250","loci":["10q24.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"8779323[PMID]_9973297[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8779323[PMID]_9973297[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-04-09","source":"26026163[PMID]","terms":[{"hpo":"HP:0007350","label":"Hyperreflexia in upper limbs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002395","label":"Lower limb hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002064","label":"Spastic gait","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010832","label":"Abnormality of pain sensation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006895","label":"Lower limb hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001317","label":"Abnormal cerebellum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011397","label":"Abnormality of the dorsal column of the spinal cord","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002425","label":"Anarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007371","label":"Corpus callosum atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000519","label":"Developmental cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002280","label":"Enlarged cisterna magna","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002527","label":"Falls","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000666","label":"Horizontal nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002166","label":"Impaired vibration sensation in the lower limbs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003419","label":"Low back pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012514","label":"Lower limb pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001653","label":"Mitral regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100515","label":"Pollakisuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002172","label":"Postural instability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000709","label":"Psychosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002464","label":"Spastic dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000012","label":"Urinary urgency","frequency":"Occasional (29-5%)","criteria":null}]}}