{"orpha":444099,"name":"Autosomal dominant spastic paraplegia type 73","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPG73"],"definition":"A pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. Foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-444099/","orphanet_url":"https://www.orpha.net/en/disease/detail/444099","names":{"fr":{"name":"Paraplégie spastique autosomique dominante type 73","synonyms":["SPG73"],"definition":"La paraplégie spastique autosomique dominante type 73 est une forme pure de paraplégie spastique héréditaire caractérisée par la survenue à l'âge adulte d'une paraplégie spastique crurale, une hyperréflexie, des réponses plantaires en extension, une faiblesse musculaire proximale, une légère atrophie musculaire, une diminution de la sensation des vibrations au niveau des chevilles, et une légère dysfonction urinaire. Certains patients peuvent présenter des déformations au niveau des pieds. L'imagerie par résonance magnétique et les études de vitesse de conduction des nerfs périphériques ne révèlent aucune anomalie."},"de":{"name":"Spastische Paraplegie, autosomal-dominante, Typ 73","synonyms":["SPG73"],"definition":"Die autosomal-dominante spastische Paraplegie Typ 73 ist eine reine Form der hereditären spastischen Paraplegie, die im Erwachsenenalter einsetzt. Sie manifestiert sich mit spastischen Paraparese in den Unterschenkeln, Hyperreflexie, plantare Streckreaktionen, proximale Muskelschwäche, milde Muskelatrophie, vermindertes Vibrationsempfinden an den Knöcheln und milde Dysfunktion des Harntrakts. Es wurde berichtet, dass bei einigen Patienten Fußdeformitäten auftreten können. Bei der Magnetresonanztomographie des Gehirns und bei Untersuchungen der peripheren Nervenleitgeschwindigkeit werden keine Anomalien festgestellt."},"es":{"name":"Paraplejía espástica autosómica dominante tipo 73","synonyms":["SPG73"],"definition":"Es una forma pura de paraplejía espástica hereditaria caracterizada por la aparición en la edad adulta de paraparesia espástica crural, hiperreflexia, respuestas plantares extensoras, debilidad muscular proximal, atrofia muscular leve, disminución de la sensación de vibración en los tobillos y leve disfunción urinaria. Se ha descrito la presencia de deformidades en los pies en algunos pacientes. No se observan anomalías en las imágenes de resonancia magnética cerebral ni en los estudios de velocidad de conducción nerviosa periférica."},"it":{"name":"Paraplegia spastica autosomica dominante, tipo 73","synonyms":["SPG73"],"definition":"La paraplegia spastica autosomica dominante tipo 73 è una forma pura di paraplegia spastica ereditaria ad esordio nell'età adulta. È caratterizzata da paraparesi spastica dei muscoli crurali, iperreflessia, risposte plantari in estensione, debolezza dei muscoli prossimali, lieve atrofia muscolare, riduzione del senso della vibrazione alle caviglie e lieve disfunzione urinaria. Alcuni pazienti presentano deformità dei piedi. La risonanza magnetica del cervello e le analisi della velocità di conduzione dei nervi periferici non evidenziano alcuna anomalia."},"nl":{"name":"Autosomaal dominante spastische paraplegie type 73","synonyms":["SPG73"],"definition":"Een zuivere vorm van erfelijke spastische paraplegie, gekarakteriseerd door aanvang in de volwassenheid van crurale spastische paraparese, hyperreflexie, afwijkende voetzoolreflexen, proximale spierzwakte, milde spieratrofie, verminderde vibratiezin ter hoogte van enkels, en milde urinaire disfunctie. Er werd gerapporteerd dat op termijn voetmisvormingen voorkomen bij sommige patiënten. Er worden geen afwijkingen opgemerkt bij beeldvorming van de hersenen met magnetische resonantie en bij analyse van perifere zenuwgeleidingssnelheden."},"pt":{"name":"Paraplegia espástica autossómica dominante tipo 73"},"pl":{"name":"Autosomalna dominująca paraplegia spastyczna typu 73","synonyms":["SPG73"]},"cs":{"name":"Autozomálně dominantní spastická paraplegie, typ 73","synonyms":["SPG73"]},"uk":{"name":"Аутосомно-домінантна спастична параплегія, тип 73","synonyms":["SPG73"],"definition":"A pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. Foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies."},"zh":{"name":"常染色体显性遗传性痉挛性截瘫73型","synonyms":["SPG73"],"definition":"单纯的遗传性痉挛性截瘫，其特征是成年人发作性痉挛性截瘫，反射亢进，足底伸肌反应，近端肌肉无力，轻度肌肉萎缩，脚踝的振动感觉降低和轻度尿路功能障碍。据报道，部分患者最终会出现脚部畸形。脑磁共振成像和周围神经传导速度检测未发现异常。"},"tr":{"name":"Otozomal dominant spastik parapleji tip 73","synonyms":["SPG73"]}},"xrefs":[{"source":"OMIM","code":"616282","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":"attributed","validated":true},{"source":"MONDO","code":"0014568","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5568981","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":"CPT1C","name":"carnitine palmitoyltransferase 1C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25751282[PMID]","hgnc":"18540","ensembl":"ENSG00000169169","omim":"608846","loci":["19q13.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"25751282[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25751282[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-04-25","source":"25751282[PMID]_23973755[PMID]","terms":[{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002314","label":"Degeneration of the lateral corticospinal tracts","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:0007020","label":"Progressive spastic paraplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002064","label":"Spastic gait","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012898","label":"Abnormal lower-limb motor evoked potentials","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008944","label":"Distal lower limb amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009053","label":"Distal lower limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","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:0007199","label":"Progressive spastic paraparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000012","label":"Urinary urgency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002921","label":"Abnormality of the cerebrospinal fluid","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Excluded (0%)","criteria":null}]}}