{"orpha":101007,"name":"Autosomal recessive spastic paraplegia type 27","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPG27"],"definition":"Autosomal recessive spastic paraplegia type 27 is a rare, pure or complex hereditary spastic paraplegia characterized by a variable onset of slowly progressive lower limb spasticity, hyperreflexia and extensor plantar responses, that may be associated with sensorimotor polyneuropathy, decreased vibration sense, lower limb distal muscle wasting, dysarthria and mild to moderate intellectual disability.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-101007/","orphanet_url":"https://www.orpha.net/en/disease/detail/101007","names":{"fr":{"name":"Paraplégie spastique autosomique récessive type 27","synonyms":["SPG27"],"definition":"Paraplégie spastique héréditaire pure ou complexe rare caractérisée par l'apparition variable d'une spasticité des membres inférieurs lentement progressive, d'une hyperréflexie et d'un signe de Babinski positif, potentiellement associés à une polyneuropathie sensitivo-motrice, une diminution du sens vibratoire, une déperdition des muscles distaux des membres inférieurs, une dysarthrie et une déficience intellectuelle légère à modérée."},"de":{"name":"Spastische Paraplegie, autosomal-rezessive, Typ 27","synonyms":["SPG27"]},"es":{"name":"Paraplejía espástica autosómica recesiva, tipo 27","synonyms":["SPG27"],"definition":"Es una paraplejía espástica hereditaria, pura o compleja, poco frecuente. Está caracterizada por un inicio variable de una espasticidad lentamente progresiva en las extremidades inferiores, hiperreflexia y respuesta plantar extensora, que puede estar asociada con polineuropatía sensitivo-motora, disminución de la sensibilidad vibratoria, atrofia de la musculatura distal de las extremidades inferiores, disartria y discapacidad intelectual de leve a moderada."},"it":{"name":"Paraplegia spastica autosomica recessiva, tipo 27","synonyms":["SPG27"],"definition":"La paraplegia spastica autosomica recessiva tipo 27 è un sottotipo raro, isolato o complesso, di paraplegia spastica ereditaria, caratterizzato da spasticità a progressione lenta degli arti inferiori ad esordio variabile, iperreflessia e risposte plantari in estensione, che possono associarsi a polineuropatia sensitivo-motoria, riduzione del senso della vibrazione, atrofia dei muscoli distali degli arti inferiori, disartria e disabilità intellettiva lieve-moderata."},"nl":{"name":"Autosomaal recessieve spastische paraplegie type 27","synonyms":["SPG27"],"definition":"Autosomaal recessieve spastische paraplegie type 27 is een zeldzame, zuivere of complexe erfelijke spastische paraplegie, en wordt gekarakteriseerd door een variabele aanvang van traag progressieve spasticiteit van de onderste ledematen, hyperreflexie en pathologische voetzoolreflexen, mogelijk geassocieerd met sensomotorische polyneuropathie, verminderde zintuiglijke waarneming van vibratie, atrofie van distale spieren in de onderste ledematen, dysartrie en milde tot matige intellectuele achterstand."},"pt":{"name":"Paraplegia espástica autossómica recessiva tipo 27","synonyms":["SPG27"]},"pl":{"name":"Autosomalna recesywna paraplegia spastyczna typu 27","synonyms":["SPG27"],"definition":"*Autosomalna recesywna paraplegia spastyczna typu 27 jest rzadką, prostą lub złożoną dziedziczną paraplegią spastyczną, która charakteryzuje się wolno postępującą spastycznością kończyn dolnych o zmiennym początku, wygórowaniem odruchów i obecnością objawu Babińskiego. Objawom tym może towarzyszyć polineuropatia czuciowo-ruchowa, osłabienia czucia wibracji, osłabienie dystalnych mięśni kończyn dolnych, dyzartria i łagodna lub umiarkowana niepełnosprawność intelektualna."},"cs":{"name":"Autozomálně recesivní spastická paraplegie, typ 27","synonyms":["SPG27"]},"uk":{"name":"Аутосомно-рецесивна спастична параплегія, тип 27","synonyms":["SPG27"],"definition":"Autosomal recessive spastic paraplegia type 27 is a rare, pure or complex hereditary spastic paraplegia characterized by a variable onset of slowly progressive lower limb spasticity, hyperreflexia and extensor plantar responses, that may be associated with sensorimotor polyneuropathy, decreased vibration sense, lower limb distal muscle wasting, dysarthria and mild to moderate intellectual disability."},"zh":{"name":"常染色体隐性遗传痉挛性截瘫27型","synonyms":["SPG27"],"definition":"常染色体隐性遗传性痉挛性截瘫27型是一种罕见、单纯或复杂的遗传性痉挛性截瘫，以缓慢进行性下肢痉挛、反射亢进和足底伸肌反应为特征，可能与感觉运动性多发性神经病、振动觉减退、下肢远端肌肉萎缩、构音障碍和轻、中度智能障碍有关。"},"tr":{"name":"Otozomal resesif spastik parapleji tip 27","synonyms":["SPG27"]}},"xrefs":[{"source":"OMIM","code":"609041","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":"2071907645"},{"source":"MONDO","code":"0012181","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563807","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1836899","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"16940","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":320346,"name":"Pure or complex autosomal recessive spastic paraplegia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SPG27","name":"spastic paraplegia 27 (autosomal recessive)","gene_type":"Disorder-associated locus","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"26071","ensembl":null,"omim":null,"loci":["10q22.1-q24.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"15455396[PMID]_16511635[PMID]_20301682[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_15455396[PMID]_16511635[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-04-26","source":"15455396[PMID]","terms":[{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006938","label":"Impaired vibration sensation at ankles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002395","label":"Lower limb hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001258","label":"Spastic paraplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005340","label":"Spastic/hyperactive bladder","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007377","label":"Abnormality of somatosensory evoked potentials","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002075","label":"Dysdiadochokinesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very rare (<4-1%)","criteria":null}]}}