{"orpha":464282,"name":"Spastic paraplegia-severe developmental delay-epilepsy syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPPRS syndrome","Spastic paraplegia-psychomotor retardation-seizures syndrome"],"definition":"Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-464282/","orphanet_url":"https://www.orpha.net/en/disease/detail/464282","names":{"fr":{"name":"Syndrome de paraplégie spastique-retard de développement sévère-épilepsie","synonyms":["Syndrome de paraplégie spastique-retard psychomoteur-épilepsie"],"definition":"Paraplégie spastique complexe rare d'origine génétique, caractérisée par un retard de développement psychomoteur avec une déficience intellectuelle sévère et un retard de la parole dès la petite enfance, associée à des crises d'épilepsie (le plus souvent myocloniques), une hypotonie musculaire qui peut être constatée à la naissance, et une spasticité lentement progressive des membres inférieurs entraînant des troubles sévères de la marche. Des anomalies oculaires et une incontinence sont souvent associées. D'autres symptômes peuvent inclure une dyspraxie verbale, un hypogénitalisme, une macrocéphalie et une perte auditive neurosensorielle, ainsi que des mouvements dystoniques et une ataxie avec atteinte des membres supérieurs."},"de":{"name":"Spastische Paraplegie-schwere Entwicklungsverzögerungen-Epilepsie-Syndrom","synonyms":["SPPRS-Syndrom","Spastische Paraplegie-psychomotorische Retardierung-Krämpfe-Syndrom"]},"es":{"name":"Síndrome de paraplejía espástica-retraso grave del desarrollo-epilepsia","synonyms":["Síndrome SPPRS"],"definition":"Es un trastorno de paraplejía espástica complejo, genético y poco frecuente, caracterizado por el inicio en la lactancia de retraso en el desarrollo psicomotor con discapacidad intelectual grave y mala adquisición del habla, junto con convulsiones (en su mayoría mioclónicas), hipotonía muscular que puede ser patente al nacimiento, y espasticidad lentamente progresiva en miembros inferiores que conduce a trastornos graves de la marcha. También se asocian anomalías oculares e incontinencia. Otros síntomas pueden incluir dispraxia verbal, hipogenitalismo, macrocefalia y pérdida auditiva neurosensorial, así como movimientos distónicos y ataxia con afectación de las extremidades superiores."},"it":{"name":"Sindrome da paraplegia spastica, grave ritardo dello sviluppo ed epilessia","definition":"La sindrome da paraplegia spastica, grave ritardo dello sviluppo ed epilessia è una forma genetica rara e complessa di paraplegia spastica, che esordisce nel periodo neonatale con ritardo dello sviluppo psicomotorio, disabilità intellettiva grave e scarsa acquisizione del linguaggio, associate a crisi epilettiche (per lo più miocloniche), ipotonia muscolare congenita e spasticità degli arti inferiori a progressione lenta, che esita in gravi disturbi della deambulazione. Spesso i pazienti presentano anomalie oculari e incontinenza. Altri segni clinici sono la disprassia verbale, l'ipogenitalismo, la macrocefalia, la sordità neurosensoriale, i movimenti distonici e l'atassia degli arti superiori."},"nl":{"name":"Spastische paraplegie - ernstige ontwikkelingsachterstand - epilepsie-syndroom","synonyms":["SPPRS-syndroom","Spastische paraplegie - psychomotorische retardatie - insulten-syndroom"],"definition":"Spastische paraplegie - ernstige ontwikkelingsachterstand - epilepsie-syndroom is een zeldzame, genetische, complexe spastische paraplegie die gekarakteriseerd wordt door een infantiele aanvang van psychomotorische ontwikkelingsachterstand met ernstige intellectuele achterstand en ondermaatse spraakverwerving, geassocieerd met insulten (meestal myoclonisch), musculaire hypotonie die mogelijk wordt opgemerkt bij de geboorte, en traag progressieve spasticiteit in de onderste ledematen met ernstige gangstoornissen tot gevolg. Oculaire anomalieën en incontinentie zijn doorgaans geassocieerd. Andere mogelijke symptomen zijn onder meer verbale dyspraxie, hypogenitalisme, macrocefalie en sensorineuraal gehoorverlies, alsook dystonische bewegingen en ataxie met betrokkenheid van de bovenste ledematen."},"pt":{"name":"Síndrome de paraplegia espástica-atraso psicomotor grave-epilepsia"},"pl":{"name":"Zespół paraplegii spastycznej, ciężkiego opóźnienia w rozwoju i padaczki","synonyms":["Zespół SPPRS","Zespół paraplegii spastycznej, opóźnienia psychoruchowego i napadów padaczkowych"],"definition":"*Zespół paraplegii spastycznej, ciężkiego opóźnienia w rozwoju i padaczki jest rzadką, genetycznie uwarunkowaną, złożoną paraplegią spastyczną, która charakteryzuje się opóźnieniem rozwoju psychoruchowego z ciężką niepełnosprawnością intelektualną oraz opóźnieniem rozwoju mowy o początku w okresie niemowlęcym, napadami drgawkowymi (głównie mioklonicznymi), obniżeniem napięcia mięśniowego, często od urodzenia, oraz powoli postępującą spastycznością kończyn dolnych, która prowadzi do poważnych zaburzeń chodu. Często obserwuje się nieprawidłowości narządu wzroku oraz nietrzymanie moczu i kału. Może wystąpić dyspraksja werbalna, niedorozwój narządów płciowych, wielkogłowie i niedosłuch czuciowo-nerwowy, a także ruchy dystoniczne i ataksja z zajęciem kończyn górnych."},"cs":{"name":"Syndrom zahrnující spastickou paraplegii, těžké vývojové opoždění a epilepsii","synonyms":["SPPRS syndrome","Spastic paraplegia-psychomotor retardation-seizures syndrome","SPPRS syndrom","Syndrom zahrnující spastickou paraplegii, psychomotorickou retardaci a záchvaty"]},"uk":{"name":"Синдром спастичної параплегії-тяжкої затримки розвитку-епілепсії","synonyms":["Синдром спастичної параплегії-психомоторної загальмованості-судомних нападів","Синдром SPPRS"],"definition":"Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement."},"zh":{"name":"痉挛性截瘫-严重发育迟缓-癫痫综合征","synonyms":["痉挛性截瘫-精神运动迟缓-癫痫综合征"],"definition":"痉挛性截瘫-严重发育迟缓-癫痫综合征是一种罕见的遗传性复杂痉挛性截瘫疾病，其特点是婴儿期起病的精神运动发育迟缓，伴有严重的智力障碍和言语习得不良，伴有癫痫发作(多为肌阵挛性)，出生时肌肉张力低下，下肢缓慢进行性痉挛导致的严重步态不稳。眼部异常和大小便失禁也是常见的症状。其他症状包括词汇运用障碍、生殖腺发育不全、大头畸形和感音神经性听力损失，以及上肢受累的张力障碍性运动和共济失调。"},"tr":{"name":"Spastik parapleji-ağır gelişme geriliği-epilepsi sendromu","synonyms":["SPPRS sendromu","Spastik parapleji-psikomotor retardasyon-nöbet sendromu"]}},"xrefs":[{"source":"OMIM","code":"616756","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014764","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5568869","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":100981,"name":"Autosomal recessive complex spastic paraplegia","classifications":[156,181]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":166472,"name":"Monogenic disease with epilepsy","classifications":[156,181]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[{"symbol":"HACE1","name":"HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26424145[PMID]_26437029[PMID]","hgnc":"21033","ensembl":"ENSG00000085382","omim":"610876","loci":["6q16.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":16.0,"area":"Worldwide","status":"Validated","source":"26424145[PMID]_26437029[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26424145[PMID]_26437029[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-10-24","source":"26424145[PMID]_26437029[PMID]","terms":[{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0007020","label":"Progressive spastic paraplegia","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0031087","label":"Absent pubertal growth spurt","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008936","label":"Axial hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025313","label":"Exophoria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002123","label":"Generalized myoclonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002061","label":"Lower limb spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000556","label":"Retinal dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002515","label":"Waddling gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012762","label":"Cerebral white matter atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011401","label":"Delayed peripheral myelination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011166","label":"Focal myoclonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008373","label":"Puberty and gonadal disorders","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010219","label":"Structural foot deformity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001437","label":"Abnormality of the musculature of the lower limbs","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0002380","label":"Fasciculations","frequency":"Excluded (0%)","criteria":null}]}}