{"orpha":101000,"name":"Autosomal recessive spastic paraplegia type 20","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Childhood-onset spastic paraparesis-distal muscle wasting syndrome","SPG20","Troyer syndrome"],"definition":"Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the <i>SPG20</i> gene (13q13.1), which encodes the protein spartin.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-101000/","orphanet_url":"https://www.orpha.net/en/disease/detail/101000","names":{"fr":{"name":"Paraplégie spastique autosomique récessive type 20","synonyms":["SPG20","Syndrome de Troyer","Syndrome de paraparésie spastique de l'enfance-amyotrophie distale"],"definition":"Type de paraplégie spastique héréditaire complexe caractérisée par l'apparition dans la petite enfance d'une paraparésie spastique progressive associée à une amyotrophie distale, une paralysie psuédobulbaire, des retards moteurs et cognitifs, des signes de légère atteinte cérébelleuse (dysarthrie, dysdiadochokinésie, tremblement intentionnel léger), une petite taille et des anomalies squelettiques subtiles (pied creux, talipes equinovarus discret, cyphoscoliose). La SPG20 est due à des mutations du gène <i>SPG20</i>(13q13.1), codant pour la protéine spartin."},"de":{"name":"Spastische Paraplegie, autosomal-rezessive, Typ 20","synonyms":["SPG20","Spastische Paraplegie, hereditäre - distaler Muskelschwund","Troyer-Syndrom"],"definition":"Die autosomal-rezessive spastische Paraplegie Typ 20 (SPG20) ist eine Form der komplexen, hereditären, spastischen Paraplegie, die durch eine im Kleinkindalter beginnende, progrediente spastische Paraparese charakterisiert ist und in Kombination mit distaler Amyotrophie, Pseudobulbärparese, motorischer sowie kognitiver Entwicklungsverzögerung, mild ausgeprägten zerebellären Funktionsstörungen (Dysarthrie, Dysdiadochokinese und Intentionstremor), Kleinwüchsigkeit und leichten skelettalen Anomalien (Pes Cavus, leichte Pes equinovarus, Kyphoskoliose) auftritt. Die SPG20 ist auf Mutationen im <i>SPG20</i>-Gen (13q13.1) zurückzuführen, welches für das Protein Spartin kodiert."},"es":{"name":"Paraplejía espástica autosómica recesiva tipo 20","synonyms":["SPG20","Síndrome de Troyer"],"definition":"Es un tipo de paraplejía espástica hereditaria compleja caracterizada por el inicio en la lactancia de paraplejía espástica progresiva asociada a amiotrofia distal, parálisis pseudobulbar, retraso motor y cognitivo, con signos cerebelosos leves (disartria, disdiadococinesia, leve temblor intencional), talla baja y pequeñas anomalías esqueléticas (pies cavos y/o equinovaros, cifoescoliosis). La enfermedad está causada por mutaciones en el gen <i>SPG20</i> (13q13.1), que codifica la proteína espartina."},"it":{"name":"Paraplegia spastica autosomica recessiva, tipo 20","synonyms":["Paraplegia spastica a esordio infantile - atrofia muscolare distale","SPG20","Sindrome di Troyer"],"definition":"La paraplegia spastica autosomica recessiva tipo 20 (SPG20) è una paraplegia spastica ereditaria complessa, caratterizzata da paraparesi spastica progressiva ad esordio infantile, associata ad amiotrofia distale, paralisi pseudobulbare, ritardo cognitivo e motorio, segni cerebellari lievi (disartria, disdiadococinesia, modesto tremore intenzionale), bassa statura e lievi anomalie scheletriche (piede cavo, lieve equinismo, cifoscoliosi). La SPG20 è causata dalle mutazioni nel gene SPG20 (13q13.1), che codifica la proteina spastina."},"nl":{"name":"Autosomaal recessieve spastische paraplegie type 20","synonyms":["SPG20","Spastische paraparese met aanvang in de kinderjaren - distale musculaire atrofie","Spastische paraparese met aanvang in de kinderjaren - distale spieratrofie","Troyersyndroom"],"definition":"Autosomaal recessieve spastische paraplegie type 20 (SPG20) is een type van complexe erfelijke spastische paraplegie dat gekarakteriseerd wordt door aanvang in de zuigelingentijd van progressieve spastische paraparese, geassocieerd met distale amyotrofie, pseudobulbaire parese, motorische en cognitieve achterstand, milde cerebellaire tekenen (dysartrie, dysdiadochokinese, milde intentietremor), kleine gestalte en subtiele afwijkingen van het skelet (pes cavus (holvoet), milde talipes equinovarus (klompvoet), kyfoscoliose). SPG20 is het gevolg van mutaties in het gen <i>SPG20</i> (13q13.1), dat codeert voor het proteïne spartine."},"pt":{"name":"Paraplegia espástica autossómica recessiva tipo 20","synonyms":["SPG20","Síndorme Troyer"]},"pl":{"name":"Autosomalna recesywna paraplegia spastyczna typu 20","synonyms":["Paraplegia spastyczna o początku w wieku dziecięcym - zanik mięsni dystalnych","SPG20","Zespół Troyera"]},"cs":{"name":"Autozomálně recesivní spastická paraplegie, typ 20","synonyms":["SPG20","Syndrom zahrnující v dětství začínající spastickou paraparézu a plýtvání distálních svalů","Troyerův syndrom"]},"uk":{"name":"Аутосомно-рецесивна спастична параплегія, тип 20","synonyms":["Дитячий синдром спастичного паралічу - дистального виснаження мязів","SPG20","Синдром Троєра"],"definition":"Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the <i>SPG20</i> gene (13q13.1), which encodes the protein spartin."},"zh":{"name":"常染色体隐性遗传痉挛性截瘫20型","synonyms":["儿童起病痉挛性截瘫-远端肌肉萎缩综合征"],"definition":"常染色体隐性遗传性痉挛性截瘫20型(SPG20)是一种复杂的遗传性痉挛性截瘫，其特征是婴儿期起病的进行性痉挛性截瘫伴远端肌萎缩、假性球麻痹、运动和认知障碍、轻度小脑体征(构音障碍、诊断运动障碍、轻度意向性震颤)、身材矮小和微妙的骨骼异常(高弓足、轻度马蹄内翻足、脊柱后侧凸)。SPG20是由于SPG20基因(13q13.1)突变所致，该基因编码SPPARN蛋白。"},"tr":{"name":"Otozomal resesif spastik parapleji tip 20","synonyms":["SPG20","Troyer sendromu","Çocukluk çağı başlangıçlı spastik paraparezi-distal kas kaybı sendromu"]}},"xrefs":[{"source":"OMIM","code":"275900","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":"1242316741"},{"source":"MONDO","code":"0010156","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536858","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0393559","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5372","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]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SPART","name":"spartin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12134148[PMID]_20437587[PMID]","hgnc":"18514","ensembl":"ENSG00000133104","omim":"607111","loci":["13q13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":36.0,"area":"Worldwide","status":"Validated","source":"28679690[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28679690[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-04-25","source":"18413476[PMID]_20437587[PMID]_26003402[PMID]_27112432[PMID]","terms":[{"hpo":"HP:0001317","label":"Abnormal cerebellum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001760","label":"Abnormal foot morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005922","label":"Abnormal hand morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012443","label":"Abnormality of brain morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001155","label":"Abnormality of the hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000924","label":"Abnormality of the skeletal system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100518","label":"Dysuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002495","label":"Impaired vibratory sensation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011094","label":"Overbite","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001350","label":"Slurred speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002464","label":"Spastic dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002313","label":"Spastic paraparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003484","label":"Upper limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001172","label":"Abnormal thumb morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005288","label":"Abnormality of the nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011448","label":"Ankle clonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030084","label":"Clinodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003693","label":"Distal amyotrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000712","label":"Emotional lability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000738","label":"Hallucinations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001609","label":"Hoarse voice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025269","label":"Panic attack","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000448","label":"Prominent nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000709","label":"Psychosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002064","label":"Spastic gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011098","label":"Speech apraxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Very rare (<4-1%)","criteria":null}]}}