{"orpha":488594,"name":"Autosomal recessive spastic paraplegia type 76","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPG76"],"definition":"Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-488594/","orphanet_url":"https://www.orpha.net/en/disease/detail/488594","names":{"fr":{"name":"Paraplégie spastique autosomique récessive type 76","synonyms":["SPG76"],"definition":"Paraplégie spastique héréditaire rare et complexe caractérisée par une spasticité et une hyperréflexie des membres inférieurs d'apparition lente et progressive à l'âge adulte, entraînant des troubles de la marche, généralement associés à une hyperréflexie des membres supérieurs et à une dysarthrie. Les déformations du pied (généralement les pieds creux) et le signe de Babinski positif sont fréquents. D'autres caractéristiques peuvent être une ataxie, une faiblesse/amyotrophie des membres inférieurs, une fonction vésicale anormale, une perte sensorielle distale et une légère déficience intellectuelle."},"de":{"name":"Spastische Paraplegie, autosomal-rezessive, Typ 76","synonyms":["SPG76"]},"es":{"name":"Paraplejía espástica autosómica recesiva tipo 76","synonyms":["SPG76"],"definition":"Es una paraplejía espástica hereditaria compleja y poco frecuente, caracterizada por espasticidad e hiperreflexia de miembros inferiores de leve a moderada, de progresión lenta e inicio en adultos, que produce trastornos de la marcha, comúnmente asociados a hiperreflexia y disartria de miembros superiores. También son frecuentes las malformaciones del pie (generalmente pie cavo) y las respuestas plantares extensoras. Otras características adicionales pueden incluir ataxia, debilidad / amiotrofia de las extremidades inferiores, disfunción de la vejiga, pérdida sensitiva distal y discapacidad intelectual leve."},"it":{"name":"Paraplegia spastica autosomica recessiva tipo 76","definition":"La paraplegia spastica autosomica recessiva tipo 76 è un sottotipo complesso raro di paraplegia spastica ereditaria, che esordisce nell'età adulta con spasticità lieve-moderata degli arti inferiori a progressione lenta ed iperreflessia, con conseguenti anomalie della deambulazione, associate di solito a iperreflessia degli arti superiori e disartria. Spesso i pazienti presentano deformità dei piedi (di solito piede cavo) e risposte plantari in estensione. Altri segni clinici comprendono l'atassia, la debolezza/amiotrofia degli arti inferiori, la disfunzione della vescica, la perdita sensoriale distale e il lieve deterioramento cognitivo."},"nl":{"name":"Autosomaal recessieve spastische paraplegie type 76","synonyms":["SPG76"],"definition":"Autosomaal recessieve spastische paraplegie type 76 is een zeldzame, complexe erfelijke spastische paraplegie, gekarakteriseerd door aanvang in de volwassenheid van traag progressieve, milde tot matige spasticiteit en hyperreflexie van onderste ledematen, met gangstoornissen tot gevolg, vaak geassocieerd met hyperreflexie van bovenste ledematen en dysartrie. Voetmisvormingen (meestal pes cavus) en voetzoolreflexen in extensie komen ook vaak voor. Mogelijke bijkomende kenmerken zijn onder meer ataxie, zwakte/amyotrofie van onderste ledematen, abnormale blaasfunctie, distaal zintuiglijk verlies en milde intellectuele aftakeling."},"pt":{"name":"Paraplegia espástica autossómica recessiva tipo 76"},"pl":{"name":"Autosomalna recesywna spastyczna paraplegia typu 76","synonyms":["SPG76"],"definition":"*Autosomalna recesywna paraplegia spastyczna typu 76 jest rzadką, złożoną dziedziczną paraplegią spastyczną, która charakteryzuje się początkiem choroby w wieku dorosłym, powoli postępującym przebiegiem klinicznym, łagodną lub umiarkowaną spastycznością i wygórowaniem odruchów w kończynach dolnych, co prowadzi do zaburzeń chodu, często z towarzyszącym wygórowaniem odruchów w kończyn górnych i dysartrią. Często występują deformacje stóp (zwykle stopa wydrążona) i dodatni objaw Babińskiego. Dodatkowe cechy to ataksja, osłabienie/zanik mięśni kończyn dolnych, zaburzenia funkcji pęcherza moczowego, dystalna utrata czucia i łagodne pogorszenie intelektu."},"cs":{"name":"Autozomálně recesivní spastická paraplegie, typ 76","synonyms":["SPG76"]},"uk":{"name":"Аутосомно-рецесивна спастична параплегія, тип 76","synonyms":["SPG76"],"definition":"Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration."},"zh":{"name":"常染色体隐性痉挛性截瘫76型","synonyms":["痉挛性截瘫76型"],"definition":"76型常染色体隐性痉挛性截瘫是一种罕见的、复杂的遗传性痉挛性截瘫，其特点是成人发病后缓慢进行性、轻至中度下肢痉挛和反射亢进，导致步态障碍，常见于上肢反射亢进和构音障碍。足部畸形（通常为高弓足）和巴彬斯基反射也很常见。其他特征可能包括共济失调、下肢无力/肌萎缩、膀胱功能异常、远端感觉丧失和轻度智力退化。"},"tr":{"name":"Otozomal resesif spastik parapleji tip 76","synonyms":["SPG76"]}},"xrefs":[{"source":"OMIM","code":"616907","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014827","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5567483","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":100981,"name":"Autosomal recessive complex spastic paraplegia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"CAPN1","name":"calpain 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"201727153400[PMID]","hgnc":"1476","ensembl":"ENSG00000014216","omim":"114220","loci":["11q13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"27153400[PMID]_27320912[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27153400[PMID]_27320912[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-05-25","source":"27153400[PMID]","terms":[{"hpo":"HP:0003487","label":"Babinski sign","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:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007350","label":"Hyperreflexia in upper limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000496","label":"Abnormality of eye movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011448","label":"Ankle clonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000009","label":"Functional abnormality of the bladder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002070","label":"Limb ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008081","label":"Pes valgus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null}]}}