{"orpha":171629,"name":"Autosomal recessive spastic paraplegia type 35","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPG35"],"definition":"Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-171629/","orphanet_url":"https://www.orpha.net/en/disease/detail/171629","names":{"fr":{"name":"Paraplégie spastique autosomique récessive type 35","synonyms":["SPG35"],"definition":"Une forme rare de paraplégie spastique héréditaire caractérisée par la survenue pendant l'enfance (ou exceptionnellement pendant l'adolescence) d'un phénotype complexe se présentant par une spasticité des membres inférieurs (suivis des membres supérieurs) avec une hyperréflexie et des réponses plantaires en extension. Les manifestations additionnelles incluent une dysarthrie progressive, une dystonie, un léger déclin cognitif, des signes extrapyramidaux, une atrophie optique et des convulsions. Des anomalies de la substance blanche et une accumulation de fer dans le cerveau sont aussi visibles à l'imagerie par résonance magnétique."},"de":{"name":"Spastische Paraplegie, autosomal-rezessive, Typ 35","synonyms":["SPG35"],"definition":"Eine seltene Form der hereditären spastischen Paraplegie, die durch den Beginn eines komplexen Phänotyps im Kindesalter (selten im Jugendalter) gekennzeichnet ist, der sich durch eine Spastik der unteren Gliedmaßen (gefolgt von den oberen Gliedmaßen) mit Hyperreflexie und extensorischen Plantarreflexen auszeichnet. Zu den zusätzlichen Manifestationen gehören progressive Dysarthrie, Dystonie, leichter kognitiver Verfall, extrapyramidale Merkmalen, Optikusatrophie und Krampfanfälle. In der Magnetresonanztomographie können Anomalien der weißen Substanz und eine Eisenanreicherung im Gehirn auffällig sein."},"es":{"name":"Paraplejía espástica autosómica recesiva tipo 35","definition":"Es una forma poco frecuente de paraplejía espástica hereditaria, caracterizada por un inicio en la infancia (excepcionalmente en la adolescencia) de un fenotipo complejo que presenta espasticidad de las extremidades inferiores (seguida de las superiores) con hiperreflexia y respuestas plantares extensoras, con manifestaciones adicionales que incluyen disartria progresiva, distonía, deterioro cognitivo leve, rasgos extrapiramidales, atrofia óptica y crisis epilépticas. También se han observado anomalías de la sustancia blanca y acúmulo de hierro en el cerebro en las neuroimágenes."},"it":{"name":"Paraplegia spastica autosomica recessiva, tipo 35","synonyms":["SPG35"],"definition":"La paraplegia spastica autosomica recessiva tipo 35 è una forma rara di paraplegia spastica ereditaria che esordisce durante l'infanzia (molto raramente nell'adolescenza) con un quadro clinico complesso, caratterizzato da spasticità agli arti inferiori (in seguito anche a quelli superiori) associata a iperreflessia e risposte plantari in estensione. Altri segni clinici sono la disartria progressiva, la distonia, il deterioramento cognitivo lieve, i sintomi extrapiramidali, l'atrofia ottica e le crisi epilettiche. La risonanza magnetica evidenzia anomalie della sostanza bianca e un accumulo di ferro nel cervello."},"nl":{"name":"Autosomaal recessieve spastische paraplegie type 35","synonyms":["SPG35"],"definition":"Autosomaal recessieve spastische paraplegie type 35 is een zeldzame vorm van erfelijke spastische paraplegie die gekarakteriseerd wordt door aanvang in de kindertijd (uitzonderlijk in de adolescentie) van een complex fenotype bestaande uit spasticiteit van de onderste ledematen (gevolgd door de bovenste ledematen) met hyperreflexie en pathologische voetzoolreflexen, met bijkomende manifestaties waaronder progressieve dysartrie, dystonie, milde cognitieve aftakeling, extrapiramidale kenmerken, opticusatrofie en insulten. Afwijkingen van de witte stof en accumulatie van ijzer in de hersenen werden ook reeds waargenomen bij beeldvorming van de hersenen met magnetische resonantie."},"pt":{"name":"Paraplegia espástica autossómica recessiva tipo 35","synonyms":["SPG35"]},"pl":{"name":"Autosomalna recesywna paraplegia spastyczna typu 35","synonyms":["SPG35"]},"cs":{"name":"Autozomálně recesivní spastická paraplegie, typ 35","synonyms":["SPG35"]},"uk":{"name":"Аутосомно-рецесивна спастична параплегія типу 35","synonyms":["SPG35"],"definition":"Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging."},"zh":{"name":"常染色体隐性遗传痉挛性截瘫35型","synonyms":["SPG35"],"definition":"常染色体隐性遗传性痉挛性截瘫35型是一种罕见的遗传性痉挛性截瘫，其主要临床表现为下肢（其次累及上肢）痉挛，伴有反射亢进和跖反射伸性。其他表现包括进行性构音障碍、肌张力障碍、轻度认知功能下降、锥体外系症状、视神经萎缩和惊厥。脑MRI表现为脑白质异常和脑组织铁沉积，发病年龄多在儿童（特别是青少年）。"},"tr":{"name":"Otozomal resesif spastik parapleji tip 35","synonyms":["SPG35"]}},"xrefs":[{"source":"OMIM","code":"612319","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":"index","validated":true,"icd11_uri":"807932315"},{"source":"MONDO","code":"0012866","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567311","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3496228","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10538","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":"FA2H","name":"fatty acid 2-hydroxylase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20104589[PMID]","hgnc":"21197","ensembl":"ENSG00000103089","omim":"611026","loci":["16q23.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":38.0,"area":"Worldwide","status":"Validated","source":"24359114[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24359114[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-02-14","source":"18463364[PMID]_19068277[PMID]_20104589[PMID]_20853438[PMID]_22146942[PMID]","terms":[{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009027","label":"Foot dorsiflexor weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002061","label":"Lower limb spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001258","label":"Spastic paraplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011448","label":"Ankle clonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007366","label":"Atrophy/Degeneration affecting the brainstem","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007371","label":"Corpus callosum atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002075","label":"Dysdiadochokinesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001310","label":"Dysmetria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002359","label":"Frequent falls","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007325","label":"Generalized dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006895","label":"Lower limb hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000657","label":"Oculomotor apraxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001285","label":"Spastic tetraparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002607","label":"Bowel incontinence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010677","label":"Enuresis nocturna","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002454","label":"Eye of the tiger anomaly of globus pallidus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000298","label":"Mask-like facies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000467","label":"Neck muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011096","label":"Peripheral demyelination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100515","label":"Pollakisuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006879","label":"Pontocerebellar atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005656","label":"Positional foot deformity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000602","label":"Ophthalmoplegia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very rare (<4-1%)","criteria":null}]}}