{"orpha":459056,"name":"Autosomal recessive spastic paraplegia type 75","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPG75"],"definition":"A rare, complex hereditary spastic paraplegia characterized by an early onset and slow progression of spastic paraplegia associated with cerebellar signs, nystagmus, peripheral neuropathy, extensor plantar responses and borderline to mild intellectual disability. Additional features of hypo- or areflexia, mild upper limb involvement and significant visual impairment (optic atrophy, vision loss, astigmatism) have been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-459056/","orphanet_url":"https://www.orpha.net/en/disease/detail/459056","names":{"fr":{"name":"Paraplégie spastique autosomique récessive type 75","synonyms":["SPG75"],"definition":"Paraplégie spastique héréditaire rare et complexe caractérisée par un début précoce et une progression lente de la paraplégie spastique associée à des signes d'atteinte cérébelleuse, un nystagmus, une neuropathie périphérique, un signe de Babinski positif et une déficience intellectuelle limite à légère. Par ailleurs, d'autres caractéristiques, telles qu'une hyporéfléxie ou une aréflexie, une légère atteinte des membres supérieurs et une déficience visuelle importante (atrophie optique, perte de vision, astigmatisme) ont été rapportées."},"de":{"name":"Spastische Paraplegie, autosomal-rezessive, Typ 75","synonyms":["SPG75"]},"es":{"name":"Paraplejía espástica autosómica recesiva tipo 75","synonyms":["SPG75"],"definition":"Es una paraplejía espástica hereditaria compleja poco frecuente caracterizada por paraplejía espática de inicio temprano y progresión lenta asociada a signos cerebelosos, nistagmo, neuropatía periférica, respuestas plantares extensoras y discapacidad intelectual leve a límite. Se han descrito otras características adicionales, tales como hipo- o arreflexia, afectación leve de las extremidades superiores y deficiencia visual significativa (atrofia óptica, pérdida de la visión, astigmatismo)."},"it":{"name":"Paraplegia spastica autosomica recessiva tipo 75","definition":"La paraplegia spastica autosomica recessiva tipo 75 è un sottotipo complesso raro di paraplegia spastica ereditaria, caratterizzata da paraplegia spastica a progressione lenta e ad esordio precoce, associata a segni cerebellari, nistagmo, neuropatia periferica, risposte plantari in estensione e disabilità intellettiva borderline-lieve. Altri segni clinici sono l'iporeflessia o l'areflessia, il lieve interessamento degli arti superiori e la significativa compromissione della vista (atrofia ottica, cecità, astigmatismo)."},"nl":{"name":"Autosomaal recessieve spastische paraplegie type 75","synonyms":["SPG75"],"definition":"Autosomaal recessieve spastische paraplegie type 75 is een zeldzame, complexe erfelijke spastische paraplegie die gekarakteriseerd wordt door een vroege aanvang en trage progressie van spastische paraplegie, geassocieerd met cerebellaire tekenen, nystagmus, perifere neuropathie, pathologische voetzoolreflexen en marginale tot milde intellectuele achterstand. Hypo- of areflexie, milde betrokkenheid van bovenste ledematen en significante visuele beperking (opticusatrofie, verlies van gezichtsvermogen, astigmatisme) werden reeds gerapporteerd als bijkomende kenmerken."},"pt":{"name":"Paraplegia espástica autossómica recessiva tipo 75"},"pl":{"name":"Autosomalna recesywna paraplegia spastyczna typu 75","synonyms":["SPG75"],"definition":"*Autosomalna recesywna paraplegia spastyczna typu 75 jest rzadką, złożoną dziedziczną paraplegią spastyczną, która charakteryzuje się powili postępującą paraplegią spastyczną o wczesnym początku, z towarzyszącymi objawami móżdżkowymi, oczopląsem, neuropatią obwodową, objawem Babińskiego i graniczną prawidłową inteligencją lub niepełnosprawnością intelektualną w stopniu lekkim. Opisywano dodatkowe objawy, w tym osłabienie lub brak odruchów, łagodne zajęcie kończyn górnych i znaczne zaburzenia widzenia (zanik nerwu wzrokowego, utrata wzroku, astygmatyzm)."},"cs":{"name":"Autozomálně recesivní spastická paraplegie, typ 75","synonyms":["SPG75"]},"uk":{"name":"Аутосомно-рецесивна спастична параплегія, тип 75","synonyms":["SPG75"],"definition":"A rare, complex hereditary spastic paraplegia characterized by an early onset and slow progression of spastic paraplegia associated with cerebellar signs, nystagmus, peripheral neuropathy, extensor plantar responses and borderline to mild intellectual disability. Additional features of hypo- or areflexia, mild upper limb involvement and significant visual impairment (optic atrophy, vision loss, astigmatism) have been reported."},"zh":{"name":"常染色体显性痉挛性截瘫75型","synonyms":["SPG75"],"definition":"75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，其特征是痉挛性截瘫起病早，进展缓慢，伴有小脑体征、眼球震颤、周围神经病变、足底外展反应和轻微至轻度智力障碍。有报道称，该病还有其他特征，如反射减弱或消失，轻度上肢受累和明显的视力障碍(视力萎缩、视力下降、散光)。"},"tr":{"name":"Otozomal resesif spastik parapleji tip 75","synonyms":["SPG75"]}},"xrefs":[{"source":"OMIM","code":"616680","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014729","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4225250","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]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"MAG","name":"myelin associated glycoprotein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26179919[PMID]","hgnc":"6783","ensembl":"ENSG00000105695","omim":"159460","loci":["19q13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"24482476[PMID]_26179919[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24482476[PMID]_26179919[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-05-25","source":"26179919[PMID]","terms":[{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008944","label":"Distal lower limb amyotrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001310","label":"Dysmetria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002495","label":"Impaired vibratory sensation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001258","label":"Spastic paraplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000540","label":"Hypermetropia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012511","label":"Temporal optic disc pallor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030187","label":"Titubation","frequency":"Occasional (29-5%)","criteria":null}]}}