{"orpha":101001,"name":"Autosomal recessive spastic paraplegia type 21","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Mast syndrome","SPG21"],"definition":"Autosomal recessive spastic paraplegia type 21 is a complex type of hereditary spastic paraplegia characterized by an onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (e.g. oromandibular dyskinesia, rigidity) and cerebellar (i.e. dysdiadochokinesia and incoordination) signs. Subtle abnormalities (e.g. developmental delays) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-101001/","orphanet_url":"https://www.orpha.net/en/disease/detail/101001","names":{"fr":{"name":"Paraplégie spastique autosomique récessive type 21","synonyms":["SPG21","Syndrome de Mast"],"definition":"Une forme complexe de paraplégie spastique héréditaire. Elle se caractérise par l'apparition, à l'adolescence ou à l'âge adulte, d'une paraparésie spastique lentement progressive, associée à une apraxie, un déclin cognitif et de la parole (conduisant à une démence et à un mutisme akinétique dans certains cas), des troubles de la personnalité, ainsi que des signes extrapyramidaux (comme une dyskinésie oromandibulaire ou une rigidité) et cérébelleux (dysdiadochocinésie et incoordination). Des anomalies subtiles (comme des retards de développement) peuvent être rapportées plus tôt dans l'enfance. L'imagerie par résonance magnétique révèle aussi un corps calleux fin et des anomalies de la substance blanche."},"de":{"name":"Spastische Paraplegie, autosomal-rezessive, Typ 21","synonyms":["SPG21","Mast-Syndrom"],"definition":"Die autosomal-rezessive spastische Paraplegie Typ 21 ist eine komplexe Form der hereditären spastischen Paraplegie, die durch den Beginn einer langsam fortschreitenden spastischen Paraparese im Jugend- oder Erwachsenenalter gekennzeichnet ist. Sie geht einher mit zusätzlichen Manifestationen wie Apraxie, kognitivem und sprachlichem Verfall (der in einigen Fällen zu Demenz und akinetischem Mutismus führt), Persönlichkeitsstörungen und extrapyramidalen Zeichen (z. B. oromandibuläre Dyskinesie, Rigidität) sowie zerebellären Auffälligkeiten (Dysdiadochokinesie und Inkoordination). Subtile Anomalien (z. B. Entwicklungsverzögerungen) können bereits in der frühen Kindheit festgestellt werden. In der Magnetresonanztomographie können ein dünnes Corpus callosum und Anomalien der weißen Substanz beobachtet werden."},"es":{"name":"Paraplejía espástica autosómica recesiva tipo 21","synonyms":["SPG21","Síndrome de Mast"],"definition":"Es una forma compleja de paraplejía espástica hereditaria caracterizada por un inicio en la adolescencia o en la edad adulta de paraplejía espástica lentamente progresiva, asociada a las manifestaciones adicionales de apraxia, deterioro cognitivo y del habla (lo que conduce, en algunos casos, a demencia y mutismo acinético), trastornos de la personalidad y signos extrapiramidales (p. ej., discinesia oromandibular, rigidez) y cerebelosos (p. ej, disdiadococinesia e incoordinación). En la infancia es posible observar algunas anomalías sutiles (p. ej, retraso del desarrollo). En imágenes de resonancia magnética se ha descrito adelgazamiento del cuerpo calloso y anomalías de la sustancia blanca con la misma frecuencia."},"it":{"name":"Paraplegia spastica autosomica recessiva, tipo 21","synonyms":["SPG21","Sindrome di Mast"],"definition":"La paraplegia spastica autosomica recessiva tipo 21 è una forma complessa di paraplegia spastica ereditaria, ad esordio nell'adolescenza o nell'età adulta, con paraparesi spastica a progressione lenta, associata ad aprassia, deterioramento cognitivo e del linguaggio (che in alcuni pazienti esita nella demenza e nel mutismo acinetico), disturbi della personalità e segni extrapiramidali (discinesia oromandibolare, rigidità) e cerebellari (disdiadococinesia e assenza di coordinazione). Alcune anomalie sfumate (ritardo dello sviluppo) possono essere presenti già durante l'infanzia. La risonanza magnetica evidenzia un assottigliamento del corpo calloso e anomalie della sostanza bianca."},"nl":{"name":"Autosomaal recessieve spastische paraplegie type 21","synonyms":["SPG21","Syndroom van Mast"],"definition":"Autosomaal recessieve spastische paraplegie type 21 is een complexe vorm van erfelijke spastische paraplegie die gekarakteriseerd wordt door aanvang in de adolescentie of volwassenheid van traag progressieve spastische paraparese geassocieerd met de bijkomende manifestaties van apraxie, aftakeling van cognitie en spraak (wat leidt tot dementie en akinetisch mutisme in sommige gevallen), persoonlijkheidsstoornissen en extrapiramidale (e.g. oromandibulaire dyskinesie, rigiditeit) en cerebellaire (i.e. dysdiadochokinesie en gebrekkige coördinatie) tekenen. Subtiele afwijkingen (e.g. ontwikkelingsachterstand) worden mogelijk vroeger in de kindertijd opgemerkt. Een dun corpus callosum en afwijkingen van de witte stof worden eveneens gerapporteerd bij beeldvorming met magnetische resonantie."},"pt":{"name":"Paraplegia espástica autossómica recessiva tipo 21","synonyms":["SPG21","Síndrome Mast"]},"pl":{"name":"Autosomalna recesywna paraplegia spastyczna typu 21","synonyms":["SPG21","Zespół Mast"]},"cs":{"name":"Autozomálně recesivní spastická paraplegie, typ 21","synonyms":["SPG21","Syndrom žírných buněk"]},"uk":{"name":"Аутосомно-рецесивна спастична параплегія, тип 21","synonyms":["Мастопатія","SPG21"],"definition":"Autosomal recessive spastic paraplegia type 21 is a complex type of hereditary spastic paraplegia characterized by an onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (e.g. oromandibular dyskinesia, rigidity) and cerebellar (i.e. dysdiadochokinesia and incoordination) signs. Subtle abnormalities (e.g. developmental delays) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging."},"zh":{"name":"常染色体隐性遗传痉挛性截瘫21型","synonyms":["Mast综合征"],"definition":"常染色体隐性遗传性痉挛性截瘫21型是一种复杂类型的遗传性痉挛性截瘫，以青春期或成年期起病为特征，并伴有失用、认知和语言能力下降(在某些情况下会导致痴呆和静止性沉默)、人格障碍和锥体外系(如口下颌运动障碍、僵直)和小脑(如运动障碍和协调障碍)体征的附加表现，是一种复杂类型的遗传性痉挛性截瘫，其特征是在青春期或成年期起病，伴有失用、认知和言语衰退(部分病例导致痴呆和静止性沉默)、锥体外系(如口下颌骨运动障碍、僵直)和小脑(如双侧运动障碍和协调不良)体征。细微的异常(例如发育迟缓)可能在童年早期就被注意到了。在磁共振成像上，胼胝体变薄和白质异常同样可见。"},"tr":{"name":"Otozomal resesif spastik parapleji tip 21","synonyms":["SPG21","Mast sendromu"]}},"xrefs":[{"source":"OMIM","code":"248900","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":"1754262944"},{"source":"MONDO","code":"0009568","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565409","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1855346","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"16939","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":"SPG21","name":"SPG21 abhydrolase domain containing, maspardin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"20373","ensembl":"ENSG00000090487","omim":"608181","loci":["15q22.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":35.0,"area":"Worldwide","status":"Validated","source":"6024251[PMID]_6024251[PMID]_14564668[PMID]_24451228[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_6024251[PMID]_14564668[PMID]_24451228[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-04-25","source":"14564668[PMID]_24451228[PMID]","terms":[{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003134","label":"Abnormality of peripheral nerve conduction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002186","label":"Apraxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010526","label":"Dysgraphia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006892","label":"Frontotemporal cerebral atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012075","label":"Personality disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002476","label":"Primitive reflex","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001317","label":"Abnormal cerebellum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002071","label":"Abnormality of extrapyramidal motor function","frequency":"Occasional (29-5%)","criteria":null}]}}