{"orpha":397946,"name":"Autosomal spastic paraplegia type 58","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal spastic ataxia type 2","SPAX2","SPG58"],"definition":"A rare, complex subtype of hereditary spastic paraplegia characterized by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-397946/","orphanet_url":"https://www.orpha.net/en/disease/detail/397946","names":{"fr":{"name":"Paraplégie spastique autosomique type 58","synonyms":["Ataxie spastique autosomique type 2","SPAX2","SPG58"],"definition":"Un sous-type rare et complexe de paraplégie spastique héréditaire, se manifestant de manière variable par une spasticité et une faiblesse lentement progressives affectant les muscles inférieurs, une ataxie cérébelleuse proéminente, associées à des troubles de la marche, une dysarthrie, des réflexes tendineux profonds et des réponses plantaires en extension accrus. Les signes additionnels peuvent inclure des mouvements involontaires (comme un clonus, un tremblement, des fasciculations, une chorée), une réduction de la sensation des vibrations, des anomalies oculomotrices (comme un nystagmus) et une amyotrophie distale affectant les membres supérieurs et inférieurs."},"de":{"name":"Spastische Paraplegie, autosomale, Typ 58","synonyms":["SPAX2","SPG58","Spastische Paraplegie, autosomale, Typ 2"],"definition":"Ein seltener, komplexer Subtyp der hereditären spastischen Paraplegie, der durch einen variablen Beginn einer langsam fortschreitenden Spastik und Schwäche der unteren Gliedmaßen und eine ausgeprägte zerebelläre Ataxie gekennzeichnet ist, die mit Gangstörungen, Dysarthrie, erhöhten tiefen Sehnenreflexen und extensorischen Plantarreflexen einhergeht. Weitere Merkmale können unwillkürliche Bewegungen (d. h. Klonus, Tremor, Faszikulationen, Chorea), ein vermindertes Vibrationsempfinden, okulomotorische Anomalien (z. B. Nystagmus) und distale Amyotrophie der oberen und unteren Gliedmaßen sein."},"es":{"name":"Paraplejía espástica autosómica tipo 58","synonyms":["Ataxia espástica autosómica tipo 2","Paraplejía espástica autosómica recesiva tipo 58","SPAX2","SPG58"],"definition":"La paraparesia espástica autosómica recesiva tipo 58, es un subtipo complejo y poco frecuente de paraparesia espástica hereditaria caracterizada por un inicio variable de espasticidad y debilidad lentamente progresiva de las extremidades inferiores y ataxia cerebelosa prominente, asociada a trastornos de la marcha, disartria, aumento de los reflejos tendinosos profundos y respuestas plantares extensoras. Otras características adicionales pueden incluir movimientos involuntarios (es decir, clonus, temblor, fasciculaciones, corea), disminución de la sensibilidad vibratoria, anomalías oculomotoras (p. ej., nistagmus) y amiotrofia distal de las extremidades superiores e inferiores."},"it":{"name":"Paraplegia spastica autosomica recessiva, tipo 58","synonyms":["SPG58"],"definition":"La paraplegia spastica autosomica recessiva tipo 58 è un sottotipo raro complesso di paraplegia spastica ereditaria, caratterizzato da spasticità e debolezza agli arti inferiori, a progressione lenta, marcata atassia cerebellare, anomalie dell'andatura, disartria, aumento dei riflessi tendinei profondi e risposte plantari in estensione. Altri segni clinici comprendono i movimenti involontari (ad esempio clonie, tremori, fascicolazioni, corea), la riduzione del senso della vibrazione, le anomalie oculomotorie (nistagmo) e l'amiotrofia distale degli arti."},"nl":{"name":"Autosomale spastische paraplegie type 58","synonyms":["Autosomale spastische ataxie type 2","SPAX2","SPG58"],"definition":"Autosomaal recessieve spastische paraplegie type 58 is een zeldzaam, complex subtype van erfelijke spastische paraplegie dat gekarakteriseerd wordt door variabele aanvang van traag progressieve spasticiteit en zwakheid in de onderste ledematen en prominente cerebellaire ataxie, geassocieerd met gangstoornissen, dysartrie, verhoogde diepe peesreflexen en voetzoolreflexen in extensie. Mogelijke bijkomende kenmerken zijn onder meer onvrijwillige bewegingen (i.e. clonus, tremor, fasciculaties, chorea), verminderde vibratiezin, oculomotorische anomalieën (e.g. nystagmus) en distale amyotrofie in de bovenste en onderste ledematen."},"pt":{"name":"Paraplegia espástica autossómica tipo 58"},"pl":{"name":"Autosomalna paraplegia spastyczna typu 58","synonyms":["SPAX2","SPG58","Autosomalna recesywna ataksja spastyczna typu 2"],"definition":"*Autosomalna recesywna paraplegia spastyczna typu 58 jest rzadką, złożoną, dziedziczną paraplegią spastyczną o zmiennym początku, która charakteryzuje się powoli postępującą spastycznością i osłabieniem kończyn dolnych wraz z nasiloną ataksją móżdżkową, która powoduje zaburzenia chodu, dysartrię, wygórowanie odruchów ścięgnistych oraz wzmożoną odpowiedź prostowników podeszwy. Dodatkowe objawy mogą obejmować mimowolne ruchy (tj. klonus/stopotrząs, drżenie, fascykulacje, pląsawica), osłabienie czucia wibracji, zaburzenia okoruchowe (np. oczopląs) oraz zanik dystalnych mięśni kończyn górnych i dolnych."},"cs":{"name":"Autozomálně recesivní spastická paraplegie, typ 58","synonyms":["SPG58"]},"uk":{"name":"Аутосомна спастична параплегія, тип 58","synonyms":["Аутосомна спастична атаксія типу 2","SPAX2","SPG58"],"definition":"A rare, complex subtype of hereditary spastic paraplegia characterized by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs."},"zh":{"name":"常染色体痉挛性截瘫58型","synonyms":["常染色体痉挛性共济失调2型"],"definition":"本病是一种罕见的、复杂的遗传性痉挛性截瘫亚型，其特征为缓慢进行性下肢痉挛和虚弱的可变发作以及显著的小脑共济失调，与步态障碍、构音障碍、深反射和足底伸肌反应亢进有关。本病的其他特征可能包括不自主运动(即阵挛、震颤、束颤、舞蹈症)、振动觉减弱、动眼神经异常(如眼球震颤)以及上肢和下肢远端肌萎缩。"},"tr":{"name":"Otozomal spastik parapleji tip 58","synonyms":["SPAX2","SPG58","Otozomal spastik ataksi tip 2"]}},"xrefs":[{"source":"OMIM","code":"611302","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0012651","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1969796","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":"KIF1C","name":"kinesin family member 1C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24319291[PMID]_24482476[PMID]","hgnc":"6317","ensembl":"ENSG00000129250","omim":"603060","loci":["17p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Adolescent","Adult","Childhood","Elderly","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":19.0,"area":"Worldwide","status":"Validated","source":"24482476[PMID]_24319291[PMID]_24482476[PMID]_24808017[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24482476[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-02-14","source":"17273843[PMID]_24319291[PMID]_24482476[PMID]","terms":[{"hpo":"HP:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002380","label":"Fasciculations","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002395","label":"Lower limb hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002497","label":"Spastic ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002072","label":"Chorea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002169","label":"Clonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003693","label":"Distal amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001310","label":"Dysmetria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025357","label":"Erratic myoclonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002359","label":"Frequent falls","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000666","label":"Horizontal nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011096","label":"Peripheral demyelination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030187","label":"Titubation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002080","label":"Intention tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030051","label":"Tip-toe gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000473","label":"Torticollis","frequency":"Very rare (<4-1%)","criteria":null}]}}