{"orpha":466722,"name":"Autosomal recessive spastic paraplegia type 77","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPG77"],"definition":"Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-466722/","orphanet_url":"https://www.orpha.net/en/disease/detail/466722","names":{"fr":{"name":"Paraplégie spastique autosomique récessive type 77","synonyms":["SPG77"],"definition":"Paraplégie spastique héréditaire pure ou complexe rare, caractérisée par l'apparition, de la la petite enfance à l'enfance, d'une spasticité lentement progressive des membres inférieurs, d'un retard dans le développement moteur, de troubles de la marche, d'une hyperréflexie et de diverses anomalies musculaires, à savoir faiblesse, hypotonie, tremblement intentionnel et amyotrophie. Des anomalies oculaires (par exemple strabisme, ptosis) et d'autres anomalies neurologiques, telles que dysarthrie, crises d'épilepsie et signe de Babinski positif, peuvent également être associées."},"de":{"name":"Spastische Paraplegie, autosomal-rezessive, Typ 77","synonyms":["SPG77"]},"es":{"name":"Paraplejía espástica autosómica recesiva tipo 77","synonyms":["SPG77"],"definition":"Es una paraplejía espástica hereditaria pura o compleja, poco frecuente, caracterizada por el inicio en la lactancia o infancia de espasticidad de las extremidades inferiores lentamente progresiva, retraso motor, trastornos de la marcha, hiperreflexia y diversas anomalías musculares, que incluyen debilidad, hipotonía, temblor intencional y amiotrofia. También puede tener asociadas anomalías oculares (por ejemplo, estrabismo, ptosis) y anomalías neurológicas, tales como disartria, convulsiones y respuestas plantares extensoras."},"it":{"name":"Paraplegia spastica autosomica recessiva tipo 77","definition":"La paraplegia spastica autosomica recessiva tipo 77 è una forma rara, pura o complessa, di paraplegia spastica ereditaria, che esordisce durante l'infanzia o la giovinezza con spasticità agli arti inferiori a progressione lenta, ritardo dello sviluppo motorio, anomalie della deambulazione, iperreflessia e anomalie muscolari, compresa la debolezza, l'ipotonia, il tremore intenzionale e l'amiotrofia. Possono associarsi anomalie oculari (ad esempio strabismo, ptosi) e neurologiche (disartria, crisi epilettiche e risposte plantari in estensione)."},"nl":{"name":"Autosomaal recessieve spastische paraplegie type 77","synonyms":["SPG77"],"definition":"Autosomaal recessieve spastische paraplegie type 77 is een zeldzame, zuivere of complexe, erfelijke spastische paraplegie die gekarakteriseerd wordt door aanvang in de zuigelingentijd tot kindertijd van traag progressieve spasticiteit van de onderste ledematen, uitgestelde motorische mijlpalen, gangstoornissen, hyperreflexie en verscheidene spierafwijkingen, waaronder zwakheid, hypotonie, intentietremor en amyotrofie. Oculaire afwijkingen (e.g. strabisme, ptose) en andere neurologische afwijkingen, zoals dysartrie, insulten en pathologische voetzoolreflexen, kunnen ook geassocieerd zijn."},"pt":{"name":"Paraplegia espástica autossómica recessiva tipo 77"},"pl":{"name":"Autosomalna recesywna paraplegia spastyczna typu 77","synonyms":["SPG77"],"definition":"*Autosomalna recesywna paraplegia spastyczna typu 77 to rzadka, izolowana lub złożona dziedziczna paraplegia spastyczna, która charakteryzuje się początkiem w okresie niemowlęcym lub wczesnym dzieciństwie, powoli postępującą spastycznością kończyn dolnych, opóźnieniem kroków milowych w rozwoju ruchowym, zaburzeniami chodu, wygórowanymi odruchami ścięgnistymi oraz różnymi objawami ze strony mięśni, w tym osłabieniem, obniżonym napięciem, drżeniem zamiarowym i zanikiem. Mogą również wystąpić nieprawidłowości narządu wzroku (np. zez, opadanie powiek) i inne zaburzenia neurologiczne, takie jak dyzartria, drgawki i dodatni objaw Babińskiego."},"cs":{"name":"Autozomálně recesivní spastická paraplegie, typ 77","synonyms":["SPG77"]},"uk":{"name":"Аутосомно-рецесивна спастична параплегія, тип 77","synonyms":["SPG77"],"definition":"Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated."},"zh":{"name":"常染色体显性痉挛性截瘫77型","synonyms":["SPG77"],"definition":"77型常染色体隐性痉挛性截瘫是一种罕见的、纯合或复杂的遗传性痉挛性截瘫，其特点是婴儿至儿童期发病，缓慢进行性下肢痉挛、运动指标延迟、步态障碍、反射亢进和各种肌肉异常，包括无力、肌张力低下、意向性震颤和肌肉萎缩。眼部异常（如斜视、上睑下垂）和其他神经系统异常，如构音困难、癫痫发作和伸性跖反射，也可能与此有关。"},"tr":{"name":"Otozomal resesif spastik parapleji tip 77","synonyms":["SPG77"]}},"xrefs":[{"source":"OMIM","code":"617046","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8B44.01","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0014882","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5569007","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":35696,"name":"Mitochondrial disorder due to a defect in mitochondrial protein synthesis","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":320346,"name":"Pure or complex autosomal recessive spastic paraplegia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"FARS2","name":"phenylalanyl-tRNA synthetase 2, mitochondrial","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26553276[PMID]","hgnc":"21062","ensembl":"ENSG00000145982","omim":"611592","loci":["6p25.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"26553276[PMID]_29126765[PMID]_25851414[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_29126765[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-12-24","source":"26553276[PMID]_25851414[PMID]_29126765[PMID]","terms":[{"hpo":"HP:0007020","label":"Progressive spastic paraplegia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002080","label":"Intention tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002505","label":"Loss of ambulation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007210","label":"Lower limb amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002395","label":"Lower limb hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002061","label":"Lower limb spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012407","label":"Scissor gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010549","label":"Weakness due to upper motor neuron dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008936","label":"Axial hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008689","label":"Bilateral cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002067","label":"Bradykinesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025488","label":"Detrusor sphincter dyssynergia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008110","label":"Equinovarus deformity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005216","label":"Impaired mastication","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100785","label":"Insomnia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000675","label":"Macrodontia of permanent maxillary central incisor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003800","label":"Muscle abnormality related to mitochondrial dysfunction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000011","label":"Neurogenic bladder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002068","label":"Neuromuscular dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002268","label":"Paroxysmal dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002421","label":"Poor head control","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002882","label":"Sudden episodic apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Occasional (29-5%)","criteria":null}]}}