{"orpha":73245,"name":"Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare neurologic disease characterized by bilateral cataract, Dandy-Walker malformation, and childhood onset of distal spinal muscular atrophy. Patients present with progressively deteriorating symmetrical distal muscle weakness and atrophy of the lower limbs (and, to a much lesser degree, also the upper limbs) and decreased tendon reflexes in the lower and upper limbs.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-73245/","orphanet_url":"https://www.orpha.net/en/disease/detail/73245","names":{"fr":{"name":"Syndrome d'amyotrophie spinale-malformation de Dandy-Walker-cataracte","definition":"Maladie neurologique rare caractérisée par une cataracte bilatérale, une malformation de Dandy-Walker et une amyotrophie spinale distale infantile. Les patients présentent une faiblesse musculaire distale symétrique progressive et une atrophie progressive des membres inférieurs (et, dans une bien moindre mesure, des membres supérieurs), ainsi qu'une diminution des réflexes tendineux dans les membres inférieurs et supérieurs."},"de":{"name":"Spinale Muskelatrophie-Dandy-Walker-Fehlbildung-Katarakt-Syndrom","definition":"Eine seltene neurologische Erkrankung, die durch bilaterale Katarakte, eine Dandy-Walker Fehlbildung und eine im Kindesalter beginnende distale spinale Muskelatrophie gekennzeichnet ist. Die Patienten zeigen eine fortschreitende symmetrische distale Muskelschwäche und -atrophie der unteren Extremitäten (und in viel geringerem Maße der oberen Extremitäten) sowie eine Abnahme der Sehnenreflexe in den unteren und oberen Extremitäten."},"es":{"name":"Síndrome de atrofia muscular espinal-malformación de Dandy-Walker-cataratas","definition":"Es una enfermedad neurológica poco frecuente caracterizada por cataratas bilaterales, malformación de Dandy-Walker y atrofia muscular espinal distal de inicio en la infancia. Los pacientes presentan debilidad muscular distal simétrica de deterioro progresivo y atrofia de las extremidades inferiores (y, en mucho menor grado, de las superiores), así como disminución de los reflejos tendinosos en las extremidades superiores e inferiores."},"it":{"name":"Sindrome atrofia muscolare spinale-malformazione di Dandy-Walker-cataratta","definition":"Si tratta di una malattia neurologica rara caratterizzata da cataratta bilaterale, malformazione di Dandy-Walker e atrofia muscolare spinale ad esordio infantile. I pazienti presentano debolezza simmetrica progressiva dei muscoli distali e atrofia degli arti inferiori (e, in minor misura, di quelli superiori) e riduzione dei riflessi tendinei negli arti superiori e inferiori."},"nl":{"name":"Spinale spieratrofie - Dandy-Walker malformatie - cataracten-syndroom","definition":"Een zeldzame neurologische aandoening, gekarakteriseerd door bilateraal cataract, Dandy-Walker malformatie, en in de kindertijd aanvangende distale spinale spieratrofie. Patiënten vertonen progressief verslechterende symmetrische distale spierzwakte en -atrofie van onderste ledematen (en in veel mindere mate ook van bovenste ledematen) en verminderde peesreflexen in onderste en bovenste ledematen."},"pt":{"name":"Síndrome de atrofia muscular espinhal-complexo de Dandy-Walker-catarata"},"pl":{"name":"Rdzeniowy zanik mięśni - malformacja Dandy'ego i Walkera - zaćma"},"cs":{"name":"Syndrom zahrnující spinální svalovou atrofii, Dandyho-Walkerovu malformaci a kataraktu","synonyms":["Syndrom zahrnující spinální svalovou atrofii, Dandy-Walkerovu malformaci a kataraktu"]},"uk":{"name":"Синдром спінальної мязової атрофії-мальформації Денді-Уокера-катаракти","definition":"A rare neurologic disease characterized by bilateral cataract, Dandy-Walker malformation, and childhood onset of distal spinal muscular atrophy. Patients present with progressively deteriorating symmetrical distal muscle weakness and atrophy of the lower limbs (and, to a much lesser degree, also the upper limbs) and decreased tendon reflexes in the lower and upper limbs."},"zh":{"name":"脊髓性肌萎缩-Dandy-Walker畸形-白内障综合征"},"tr":{"name":"Spinal müsküler atrofi-Dandy-Walker malformasyon-katarakt sendromu"}},"xrefs":[{"source":"ICD-10","code":"G12.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0019132","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4509964","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":207012,"name":"Spinal muscular atrophy associated with central nervous system anomaly","classifications":[156,181]},{"orpha":269546,"name":"Syndrome with a Dandy-Walker malformation as a major feature","classifications":[147,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"16024908[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_16024908[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-10-16","source":"16024908[PMID]","terms":[{"hpo":"HP:0000518","label":"Cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001320","label":"Cerebellar vermis hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001305","label":"Dandy-Walker malformation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008944","label":"Distal lower limb amyotrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002460","label":"Distal muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003444","label":"EMG: chronic denervation signs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002280","label":"Enlarged cisterna magna","frequency":"Very frequent (99-80%)","criteria":null}]}}