{"orpha":320370,"name":"Autosomal recessive spastic paraplegia type 43","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPG43"],"definition":"Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-320370/","orphanet_url":"https://www.orpha.net/en/disease/detail/320370","names":{"fr":{"name":"Paraplégie spastique autosomique récessive type 43","synonyms":["SPG43"],"definition":"Une paraplégie spastique héréditaire, complexe et rare, caractérisée par la survenue, de l'enfance à l'adolescence, d'une spasticité progressive affectant les membres inférieurs, associée à des troubles légers à sévères de la marche, des réponses plantaires en extension, une faiblesse musculaire et une atrophie distale sévère, atteignant souvent les membres supérieurs. Les signes additionnels peuvent inclure des contractures articulaires, une perte sensorielle distale, ainsi que des réflexes tendineux profonds absents ou brusques. Une dépression, une perte de la mémoire, une atrophie optique (avec perte de la vision) et un dépôt de fer dans le cerveau (révélé par l'imagerie cérébrale) ont aussi été rapportés."},"de":{"name":"Spastische Paraplegie, autosomal-rezessive, Typ 43","synonyms":["SPG43"],"definition":"Die autosomal-rezessive spastische Paraplegie Typ 43 ist eine seltene, komplexe hereditäre spastische Paraplegie, die durch eine im Kindes- bis Jugendalter einsetzende progressive Spastik der unteren Gliedmaßen gekennzeichnet ist, die mit leichten bis schweren Gangstörungen, extensorischen Plantarreflexen, Muskelschwäche und schwerer distaler Atrophie, häufig mit Beteiligung der oberen Gliedmaßen, einhergeht. Zusätzliche Merkmale können Gelenkkontrakturen, distaler sensorischer Verlust und rege oder fehlende tiefe Sehnenreflexe sein. Andere Anzeichen wie Depressionen, Gedächtnisverlust, Optikusatrophie (mit Sehkraftverlust) und Eisenablagerungen im Gehirn (die durch Bildgebung sichtbar werden) wurden ebenfalls dokumentiert."},"es":{"name":"Paraplejía espástica autosómica recesiva tipo 43","synonyms":["SPG43"],"definition":"La paraplejía espástica autosómica recesiva tipo 43 es una paraplejía espástica de herencia compleja y poco frecuente, que se caracteriza por un inicio en la infancia o adolescencia de espasticidad progresiva de las extremidades inferiores asociada con trastornos de la marcha de leves a graves, respuestas plantares extensoras, debilidad muscular y atrofia distal grave, con afectación frecuente de las extremidades superiores. Otras características adicionales pueden incluir contracturas articulares, pérdida de sensibilidad distal y reflejos tendinosos vivos o ausentes. También se han notificado otros signos, tales como depresión, pérdida de memoria, atrofia óptica (con pérdida de visión) y acúmulo cerebral de hierro (observados en neuroimagen)."},"it":{"name":"Paraplegia spastica autosomica recessiva, tipo 43","synonyms":["SPG43"],"definition":"La paraplegia spastica autosomica recessiva tipo 43 è una malattia ereditaria rara e complessa, ad esordio nell'infanzia o nell'adolescenza con spasticità progressiva agli arti inferiori, associata ad anomalie della deambulazione lievi-gravi, risposte plantari in estensione, debolezza muscolare e marcata atrofia distale, spesso con interessamento degli arti superiori. Altri possibili segni clinici sono le contratture articolari, la perdita sensoriale distale e la velocizzazione o l'assenza dei riflessi tendinei profondi. Sono stati descritti pazienti con depressione, perdita della memoria, atrofia ottica (con perdita della vista) e depositi di ferro nel cervello (evidenti alle immagini diagnostiche)."},"nl":{"name":"Autosomaal recessieve spastische paraplegie type 43","synonyms":["SPG43"],"definition":"Autosomaal recessieve spastische paraplegie type 43 is een zeldzame, complexe erfelijke spastische paraplegie die gekarakteriseerd wordt door aanvang in de kindertijd tot adolescentie van progressieve spasticiteit van de onderste ledematen, geassocieerd met milde tot ernstige gangstoornissen, een pathologische voetzoolreflex, spierzwakte en ernstige distale atrofie, vaak met betrokkenheid van de bovenste ledematen. Mogelijke bijkomende kenmerken zijn onder meer gewrichtscontracturen, distaal zintuiglijk verlies en snelle of afwezige diepe peesreflexen. Andere tekenen, zoals depressie, geheugenverlies, opticusatrofie (met verlies van gezichtsvermogen) en ijzerafzetting in de hersenen (aangetoond door beeldvorming van de hersenen) werden ook reeds gerapporteerd."},"pt":{"name":"Paraplegia espástica autossómica recessiva tipo 43"},"pl":{"name":"Autosomalna recesywna paraplegia spastyczna typu 43","synonyms":["SPG43"]},"cs":{"name":"Autozomálně recesivní spastická paraplegie, typ 43","synonyms":["SPG43"]},"uk":{"name":"Аутосомно-рецесивна спастична параплегія, тип 43","synonyms":["SPG43"],"definition":"Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported."},"zh":{"name":"常染色体隐性遗传痉挛性截瘫43型","synonyms":["SPG43"],"definition":"常染色体隐性痉挛性截瘫43型是一种罕见、复杂的遗传性痉挛性截瘫，其特征为儿童期至青少年期起病的进行性下肢痉挛发作，伴有轻度至重度步态障碍、足底伸肌反应、肌肉无力和严重远端萎缩，通常伴有上肢受累。其他特征可能包括关节挛缩、远端感觉丧失以及深部肌腱反射活跃或缺失。其他症状，如抑郁、记忆丧失、视神经萎缩(伴有视力丧失)和脑铁沉积(通过大脑成像显示)也有报道。"},"tr":{"name":"Otozomal resesif spastik parapleji tip 43","synonyms":["SPG43"]}},"xrefs":[{"source":"OMIM","code":"615043","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":"attributed","validated":true},{"source":"MONDO","code":"0014024","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2680446","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"17473","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":"C19ORF12","name":"chromosome 19 open reading frame 12","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23857908[PMID]","hgnc":"25443","ensembl":"ENSG00000131943","omim":"614297","loci":["19q12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"20039086[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20039086[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-05-16","source":"20039086[PMID]","terms":[{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003693","label":"Distal amyotrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002460","label":"Distal muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007010","label":"Poor fine motor coordination","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002064","label":"Spastic gait","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002313","label":"Spastic paraparesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003438","label":"Absent Achilles reflex","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006466","label":"Ankle flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001348","label":"Brisk reflexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012785","label":"Flexion contracture of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007083","label":"Hyperactive patellar reflex","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002495","label":"Impaired vibratory sensation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006380","label":"Knee flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null}]}}