{"orpha":1216,"name":"Autosomal dominant congenital benign spinal muscular atrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal dominant benign distal spinal muscular atrophy","Congenital benign spinal muscular atrophy with contractures","Congenital nonprogressive spinal muscular atrophy"],"definition":"A rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfuntion are usually also associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1216/","orphanet_url":"https://www.orpha.net/en/disease/detail/1216","names":{"fr":{"name":"Amyotrophie spinale bénigne congénitale autosomique dominante","synonyms":["Amyotrophie spinale bénigne congénitale avec contractures","Amyotrophie spinale congénitale non progressive","Amyotrophie spinale distale bénigne autosomique dominante"],"definition":"Une neuropathie motrice distale, héréditaire et rare, caractérisée par une faiblesse et une atrophie musculaires congénitales, non progressives, principalement distales, affectant les membres inférieurs, ainsi que des contractures congénitales de flexion (ou d'apparition précoce) affectant les articulations de la hanche, des genoux et des chevilles. Habituellement, les signes sont aussi associés à une réduction ou une absence de réflexes tendineux profonds au niveau des membres inférieurs, à des anomalies squelettiques (pieds bots varus équins bilatéraux, scoliose, cyphoscoliose, hyperlordose lombaire), une acquisition tardive de la marche, une démarche dandinante, une hyperlaxité articulaire et/ou une dysfonction vésicale et intestinale."},"de":{"name":"Kongenitale benigne spinale Muskelatrophie, autosomal-dominante Form","synonyms":["Kongenitale benigne spinale Muskelatrophie mit Krampfanfällen","Spinale Muskelatrophie, benigne, autosomal-dominante","Spinale Muskelatrophie, kongenitale nicht-progressive"],"definition":"Eine seltene distale hereditäre motorische Neuropathie mit einem variablen klinischen Phänotyp, der typischerweise durch kongenitale, nicht-progressive, vorwiegend distale Muskelschwäche und -atrophie der unteren Gliedmaßen und kongenitale (oder früh einsetzende) Beugekontrakturen der Hüft-, Knie- und Sprunggelenke gekennzeichnet ist. Reduzierte oder fehlende tiefe Sehnenreflexe der unteren Gliedmaßen, Skelettanomalien (bilaterale Talipes equinovarus, Skoliose, Kyphoskoliose, lumbale Hyperlordose), verspätetes Gehen, Watschelgang, Gelenkhyperlaxie und/oder Blasen- und Darmfunktionsstörungen sind in der Regel ebenfalls assoziiert."},"es":{"name":"Atrofia muscular espinal benigna congénita autosómica dominante","synonyms":["Atrofia muscular espinal benigna congénita con contracturas","Atrofia muscular espinal congénita no regresiva","Atrofia muscular espinal distal benigna autosómica dominante"],"definition":"Es una neuropatía motora distal hereditaria poco frecuente, con un fenotipo clínico variable, caracterizada por debilidad y atrofia muscular congénita, no progresiva, predominantemente distal, de las extremidades inferiores, así como por contracturas en flexión congénitas (o de inicio temprano) de las articulaciones de la cadera, rodilla y tobillo. Por lo general, también se asocian reflejos osteotendinosos reducidos o ausentes en las extremidades inferiores, anomalías esqueléticas (talipes equinovarus bilateral, escoliosis, cifoescoliosis, hiperlordosis lumbar), deambulación tardía, marcha anserina, hiperlaxitud articular y/o disfunción vesical e intestinal."},"it":{"name":"Atrofia muscolare spinale congenita benigna autosomica dominante","definition":"L'atrofia muscolare spinale congenita benigna autosomica dominante è una neuropatia motoria distale rara ereditaria. Il quadro clinico è variabile, di solito caratterizzato da debolezza e atrofia congenite, non progressive, per lo più distali, dei muscoli degli arti inferiori e contratture congenite in flessione (ad esordio precoce) delle anche, delle ginocchia e delle articolazioni delle caviglie. Di solito si associa ad una riduzione o all'assenza dei rilessi tendinei profondi agli arti inferiori, anomalie scheletriche (piedi torti equino-vari, scoliosi, cifoscoliosi, iperlordosi lombare), ritardo della deambulazione, andatura a base allargata, iperlassità articolare e/o disfunzione della vescica e dell'intestino."},"nl":{"name":"Autosomaal dominante congenitale goedaardige spinale spieratrofie","synonyms":["Autosomaal dominante goedaardige distale spinale spieratrofie","Congenitale goedaardige spinale spieratrofie met contracturen","Congenitale niet-progressieve spinale spieratrofie"],"definition":"Een zeldzame distale erfelijke motorische neuropathie met een variabel klinisch fenotype, doorgaans gekarakteriseerd door congenitale, niet-progressieve zwakte en atrofie van voornamelijk distale onderste ledematen en congenitale (of vroeg aanvangende) flexiecontracturen van heup-, knie- en enkelgewrichten. Verminderde of afwezige diepe peesreflexen van onderste ledematen, skeletanomalieën (bilaterale talipes equinovarus (klompvoet), scoliose, kyfoscoliose, lumbale hyperlordose), pas laat kunnen stappen, een waggelende gang, gewrichtshyperlaxiteit en/of blaas- en darmdisfunctie zijn meestal ook geassocieerd."},"pt":{"name":"Atrofia muscular espinhal congénita benigna autossómica dominante"},"pl":{"name":"Autosomalny dominujący wrodzony łagodny rdzeniowy zanik mięśni","synonyms":["Wrodzony niepostępujący rdzeniowy zanik mięśni","Autosomalny dominujący łagodny rdzeniowy zanik mięśni dystalnych","Wrodzony łagodny rdzeniowy zanik mięśni z przykurczami"]},"cs":{"name":"Autozomálně dominantní vrozená benigní spinální svalová atrofie","synonyms":["Vrozená benigní spinální svalová atrofie s kontrakturami","Vrozená neprogresivní spinální svalová atrofie","Autozomálně dominantní benigní distální spinální svalová atrofie"]},"uk":{"name":"Аутосомно-домінантна вроджена доброякісна спінальна мязова атрофія","synonyms":["Аутосомно-домінантна доброякісна дистальна спінальна мязова атрофія","Вроджена доброякісна спінальна мязова атрофія з контрактурами","Вроджена непрогресуюча спінальна мязова атрофія"],"definition":"A rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfuntion are usually also associated."},"zh":{"name":"常染色体显性遗传先天性良性脊髓性肌萎缩","synonyms":["先天性良性脊髓性肌萎缩伴挛缩"]},"tr":{"name":"Otozomal dominant doğumsal selim spinal müsküler atrofi","synonyms":["Doğumsal ilerleyici olmayan spinal kas atrofi","Otozomal dominant selim distal spinal kas atrofisi","Kontraktürlü doğumsal selim spinal kas atrofisi"]}},"xrefs":[{"source":"OMIM","code":"600175","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G12.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8B61.4","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"741190474"},{"source":"MONDO","code":"0010839","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563981","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1838492","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1474","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":140465,"name":"Autosomal dominant distal hereditary motor neuropathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"TRPV4","name":"transient receptor potential cation channel subfamily V member 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24830047[PMID]_22526352[PMID]","hgnc":"18083","ensembl":"ENSG00000111199","omim":"605427","loci":["12q24.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0004326","label":"Cachexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003693","label":"Distal amyotrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008964","label":"Nonprogressive muscular atrophy","frequency":"Very frequent (99-80%)","criteria":null}]}}