{"orpha":100985,"name":"Autosomal dominant spastic paraplegia type 4","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPG4"],"definition":"A rare form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-100985/","orphanet_url":"https://www.orpha.net/en/disease/detail/100985","names":{"fr":{"name":"Paraplégie spastique autosomique dominante type 4","synonyms":["SPG4"],"definition":"La paraplégie spastique autosomique dominant type 4 (SPG4) est une forme de paraplégie spastique héréditaire présentant une grande variabilité clinique intrafamiliale. Dans la plupart des cas, elle survient à l'âge adulte (surtout de la troisième à la cinquième décennie, mais elle peut survenir à tout âge). Elle se caractérise par un phénotype pur qui se manifeste par une atteinte progressive de la marche due à une spasticité et une faiblesse bilatérales des membres inférieurs, ainsi qu'une très légère faiblesse proximale et une urgence urinaire. Dans certains cas, un phénotype complexe est aussi rapporté. Les manifestations incluent une atteinte cognitive, une ataxie cérébelleuse, une épilepsie et une neuropathie. Une progression plus rapide de la maladie est notée chez les patients dont la maladie se déclare plus tardivement."},"de":{"name":"Spastische Paraplegie, autosomal-dominante, Typ 4","synonyms":["SPG4","Spastische Paraplegie, autosomal-dominante, familiäre, Typ 2"],"definition":"Eine seltene Form der hereditären spastischen Paraplegie mit hoher intrafamiliärer klinischer Variabilität, die in den meisten Fällen als reiner Phänotyp mit Beginn im Erwachsenenalter (hauptsächlich in der 3. bis 5. Lebensdekade, kann aber in jedem Alter auftreten) mit fortschreitender Gangstörung aufgrund von beidseitiger Spastik und Schwäche der unteren Gliedmaßen sowie sehr leichter proximaler Schwäche und Harndrang charakterisiert ist. In einigen Fällen wird auch ein komplexer Phänotyp mit zusätzlichen Manifestationen einschließlich kognitiver Beeinträchtigung, zerebellärer Ataxie, Epilepsie und Neuropathie beobachtet. Ein schnellerer Krankheitsverlauf wird bei Patienten mit einem späteren Erkrankungsalter beobachtet."},"es":{"name":"Paraplejía espástica autosómica dominante tipo 4","synonyms":["SPG4"],"definition":"Es una forma de paraplejía espástica hereditaria con alta variabilidad clínica intrafamiliar, caracterizada en la mayoría de los casos como un fenotipo puro de inicio en la edad adulta (principalmente de la tercera a la quinta década de vida, pero que puede presentarse a cualquier edad) con afectación progresiva de la marcha debido a la espasticidad y debilidad bilateral de las extremidades inferiores, así como debilidad proximal muy leve y urgencia urinaria. En algunos casos, también se ha descrito un fenotipo complejo con manifestaciones adicionales que incluyen afectación cognitiva, ataxia cerebelosa, epilepsia y neuropatía. Se observa una progresión más rápida de la enfermedad en pacientes con una edad de inicio más tardía."},"it":{"name":"Paraplegia spastica autosomica dominante, tipo 4","synonyms":["Paraplegia spastica autosomica dominante, tipo 2","SPG4"],"definition":"La paraplegia spastica autosomica dominante tipo 4 (SPG4) è una paraplegia spastica ereditaria che presenta un'elevata variabilità clinica intrafamiliare ed è caratterizzata, nella maggior parte dei casi, da un quadro clinico puro, che comprende anomalie progressive della deambulazione, secondarie alla spasticità e alla debolezza bilaterale degli arti inferiori, lieve debolezza prossimale e urgenza minzionale; l'esordio avviene nell'età adulta (prevalentemente tra la terza e la quinta decade), ma in teoria a qualsiasi età. In alcuni casi, è presente un quadro clinico complesso, caratterizzato da altri segni, compreso il deficit cognitivo, l'atassia cerebellare, l'epilessia e la neuropatia. Le forme ad esordio più tardivo si associano a una progressione più rapida."},"nl":{"name":"Autosomaal dominante spastische paraplegie type 4","synonyms":["SPG4"],"definition":"Een zeldzame vorm van erfelijke spastische paraplegie met een hoge intrafamiliale klinische variabiliteit, in de meeste gevallen gekarakteriseerd als een zuiver fenotype met aanvang in de volwassenheid (vooral in het 3de tot 5de levensdecennium, maar aanvang is mogelijk op elke leeftijd) van progressieve gangstoornis vanwege bilaterale spasticiteit en zwakte van onderste ledematen, alsook zeer milde proximale zwakte en urinaire urgentie. In sommige gevallen wordt ook een complex fenotype gerapporteerd met bijkomende manifestaties waaronder cognitieve functiestoornis, cerebellaire ataxie, epilepsie en neuropathie. Bij patiënten met een latere aanvangsleeftijd wordt een snellere progressie van de ziekte waargenomen."},"pt":{"name":"Paraplegia espástica autossómica dominante tipo 4","synonyms":["SPG4"]},"pl":{"name":"Autosomalna dominująca paraplegia spastyczna typu 4","synonyms":["SPG4"]},"cs":{"name":"Autozomálně dominantní spastická paraplegie, typ 4","synonyms":["SPG4"]},"uk":{"name":"Аутосомно-домінантна спастична параплегія, тип 4","synonyms":["SPG4"],"definition":"A rare form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset."},"zh":{"name":"常染色体显性遗传痉挛性截瘫4型","synonyms":["SPG4"],"definition":"常染色体显性遗传性痉挛性截瘫4型是一种罕见的遗传性痉挛性截瘫，具有很高的家族内临床变异性，在大多数情况下表现为纯表现型，成人起病(主要是第3-50岁，但可以在任何年龄出现)，由于双侧下肢痉挛和虚弱，以及非常轻微的近端无力和尿急，导致进行性步态障碍。在一些病例中，还报告了一种复杂的表型，并伴有其他表现，包括认知障碍、小脑性共济失调、癫痫和神经病变。发病年龄较晚的患者病情进展较快。"},"tr":{"name":"Otozomal dominant spastik parapleji tip 4","synonyms":["SPG4"]}},"xrefs":[{"source":"OMIM","code":"182601","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":"810952971"},{"source":"MONDO","code":"0008438","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536865","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1866855","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4925","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":320342,"name":"Pure or complex autosomal dominant spastic paraplegia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SPAST","name":"spastin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17895902[PMID]","hgnc":"11233","ensembl":"ENSG00000021574","omim":"604277","loci":["2p22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.91,"area":"Portugal","status":"Validated","source":"23609960[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-03-02","source":"20301339[PMID]_17098887[PMID]","terms":[{"hpo":"HP:0011448","label":"Ankle clonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001348","label":"Brisk reflexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004302","label":"Functional motor deficit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006938","label":"Impaired vibration sensation at ankles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008969","label":"Leg muscle stiffness","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:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000012","label":"Urinary urgency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003693","label":"Distal amyotrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007350","label":"Hyperreflexia in upper limbs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002839","label":"Urinary bladder sphincter dysfunction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null}]}}