{"orpha":171612,"name":"Autosomal dominant spastic paraplegia type 37","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPG37"],"definition":"A pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-171612/","orphanet_url":"https://www.orpha.net/en/disease/detail/171612","names":{"fr":{"name":"Paraplégie spastique autosomique dominante type 37","synonyms":["SPG37"],"definition":"La paraplégie spastique autosomique dominante type 37 est une forme pure de paraplégie spastique héréditaire, caractérisée par la survenue, de l'enfance à l'âge adulte, d'une démarche spastique lentement progressive, de réponses d'extension plantaire, de réflexes tendineux brusques au niveau des bras et des jambes, d'une diminution de la sensation des vibrations au niveau des chevilles et d'une dysfonction urinaire. Un clonus de la cheville est aussi rapporté chez certains patients."},"de":{"name":"Spastische Paraplegie, autosomal-dominante, Typ 37","synonyms":["SPG37"],"definition":"Die autosomal-dominante spastische Paraplegie Typ 37 ist eine reine Form der hereditären spastischen Paraplegie, die durch einen im Kindes- bis Erwachsenenalter auftretenden, langsam progredienten spastischen Gang, extensorische Plantarreflexe, rege Sehnenreflexe in Armen und Beinen, ein vermindertes Vibrationsempfinden an den Knöcheln und eine Harndysfunktion gekennzeichnet ist. Bei einigen Patienten wird auch ein Knöchelklonus berichtet."},"es":{"name":"Paraplejía espástica autosómica dominante tipo 37","definition":"Es una forma pura de paraplejía espástica hereditaria caracterizada por un inicio, en la infancia o la edad adulta, con marcha espástica lentamente progresiva, respuestas plantares extensoras, reflejos tendinosos exaltados en brazos y piernas, disminución de la sensibilidad vibratoria en los tobillos y disfunción urinaria. También se ha descrito clonus aquileo en algunos afectados."},"it":{"name":"Paraplegia spastica autosomica dominante, tipo 37","synonyms":["SPG37"],"definition":"La paraplegia spastica autosomica dominante tipo 37 è una forma pura di paraplegia spastica ereditaria, caratterizzata da andatura spastica a progressione lenta, risposte plantari in estensione, velocizzazione dei riflessi tendinei nelle braccia e nelle gambe, riduzione del senso della vibrazione alle caviglie e disfunzione urinaria; l'esordio varia tra l'infanzia e l'età adulta. Alcuni pazienti presentano clonie alle caviglie."},"nl":{"name":"Autosomaal dominante spastische paraplegie type 37","synonyms":["SPG37"],"definition":"Een zuivere vorm van erfelijke spastische paraplegie, gekarakteriseerd door aanvang in de kindertijd tot de volwassenheid van traag progressieve spastische gang, afwijkende voetzoolreflexen, levendige peesreflexen in armen en benen, verminderd gevoel voor vibratie ter hoogte van de enkels en urinaire disfunctie. Bij sommige patiënten wordt ook enkelclonus gerapporteerd."},"pt":{"name":"Paraplegia espástica autossómica dominante tipo 37","synonyms":["SPG37"]},"pl":{"name":"Autosomalna dominująca paraplegia spastyczna typu 37","synonyms":["SPG37"]},"cs":{"name":"Autozomálně dominantní spastická paraplegie, typ 37","synonyms":["SPG37"]},"uk":{"name":"Аутосомно-домінантна спастична параплегія, тип 37","synonyms":["SPG37"],"definition":"A pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients."},"zh":{"name":"常染色体显性遗传痉挛性截瘫37型","synonyms":["SPG37"],"definition":"常染色体显性遗传性痉挛性截瘫37型一种单纯的遗传性痉挛性截瘫，其主要临床表现为缓慢进行性痉挛步态、跖反射伸性、手臂和腿部腱反射亢进、脚踝振动觉障碍和排尿障碍，部分患者出现踝阵挛踝阵挛，多在儿童期到成年期起病。"},"tr":{"name":"Otozomal dominant spastik parapleji tip 37","synonyms":["SPG37"]}},"xrefs":[{"source":"OMIM","code":"611945","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8B44.00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1636862745"},{"source":"MONDO","code":"0012766","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567931","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2936880","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":100980,"name":"Autosomal dominant pure spastic paraplegia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"KPNA3","name":"karyopherin subunit alpha 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34564892[PMID]","hgnc":"6396","ensembl":"ENSG00000102753","omim":"601892","loci":["13q14.2"]},{"symbol":"SPG37","name":"spastic paraplegia 37 (autosomal dominant)","gene_type":"Disorder-associated locus","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"33472","ensembl":null,"omim":null,"loci":["8p21.2-q13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":13.0,"area":"Worldwide","status":"Validated","source":"17605047[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_17605047[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-04-25","source":"17605047[PMID]","terms":[{"hpo":"HP:0002314","label":"Degeneration of the lateral corticospinal tracts","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007020","label":"Progressive spastic paraplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002166","label":"Impaired vibration sensation in the lower limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002061","label":"Lower limb spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100561","label":"Spinal cord lesion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002169","label":"Clonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007350","label":"Hyperreflexia in upper limbs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002064","label":"Spastic gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000012","label":"Urinary urgency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012898","label":"Abnormal lower-limb motor evoked potentials","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0002921","label":"Abnormality of the cerebrospinal fluid","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Excluded (0%)","criteria":null}]}}