{"orpha":404521,"name":"Spinal muscular atrophy with respiratory distress type 2","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Diaphragmatic spinal muscular atrophy type 2","SMARD2","Severe infantile axonal neuropathy with respiratory failure type 2","X-linked spinal muscular atrophy with respiratory distress"],"definition":"Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-404521/","orphanet_url":"https://www.orpha.net/en/disease/detail/404521","names":{"fr":{"name":"Amyotrophie spinale avec détresse respiratoire type 2","synonyms":["Amyotrophie spinale diaphragmatique type 2","Amyotrophie spinale liée à l'X avec détresse respiratoire","Neuropathie axonale infantile sévère avec insuffisance respiratoire type 2","SMARD2"],"definition":"Maladie génétique rare du motoneurone caractérisée par une insuffisance respiratoire précoce progressive associée à une paralysie du diaphragme, une faiblesse musculaire distale, des contractures articulaires et une hypotonie axiale avec préservation des maintien antigravitaire des membres. Le phénotype se confond considérablement avec celui du SMARD type 1, mais s'en distingue car le gène muté est différent."},"de":{"name":"Spinale Muskelatrophie mit Atemnot Typ 2","synonyms":["SMARD2","Schwere infantile axonale Neuropathie mit Atemversagen Typ 2","Spinale Muskelatrophie, diaphragmatische, Typ 2","X-chromosomale spinale Muskelatrophie mit Atemnot"]},"es":{"name":"Atrofia muscular espinal con insuficiencia respiratoria tipo 2","synonyms":["Atrofia muscular espinal diafragmática tipo 2","Atrofia muscular espinal ligada al cromosoma X con insuficiencia respiratoria","Neuropatía axonal infantil grave con insuficiencia respiratoria tipo 2","SMARD2"],"definition":"La atrofia muscular espinal con insuficiencia respiratoria tipo 2, es una enfermedad de la motoneurona, genética y poco frecuente, caracterizada por insuficiencia respiratoria progresiva temprana asociada a parálisis del diafragma, debilidad muscular distal, contracturas articulares e hipotonía axial con movimientos antigravitatorios preservados en las extremidades. El fenotipo se solapa considerablemente con SMARD tipo 1, pero se diferencia por una mutación en un gen diferente."},"it":{"name":"Atrofia muscolare spinale con distress respiratorio, tipo 2","synonyms":["Atrofia muscolare diaframmatica, tipo 2","Atrofia muscolare legata all'X con distress respiratorio","Neuropatia assonale infantile grave con insufficienza respiratoria, tipo 2","SMARD2"],"definition":"L'atrofia muscolare spinale con distress respiratorio tipo 2 è una malattia genetica rara dei motoneuroni, caratterizzata da insufficienza respiratoria precoce progressiva, associata a paralisi del diaframma, debolezza dei muscoli distali, contratture articolari ed ipotonia assiale. I movimenti antigravitari degli arti sono preservati. Il quadro clinico si sovrappone notevolmente con quello della SMARD tipo 1, dalla quale si differenzia per la presenza di una mutazione in un gene diverso."},"nl":{"name":"Spinale spieratrofie met ademhalingsnood type 2","synonyms":["Diafragmatische spinale spieratrofie type 2","Ernstige infantiele axonale neuropathie met respiratoir falen type 2","SMARD2","X-gebonden spinale musculaire atrofie met respiratoire insufficiëntie"],"definition":"Spinale musculaire atrofie met respiratoire insufficiëntie type 2 is een zeldzame, genetische motorneuronziekte die gekarakteriseerd wordt door progressieve vroege respiratoire insufficiëntie geassocieerd met diafragma verlamming, distale spierzwakte, gewrichtscontracturen, en axiale hypotonie met bewaarde antizwaartekracht bewegingen van ledematen. Het fenotype overlapt aanzienlijk met dat van SMARD type 1, maar differentiatie gebeurt op basis van een mutatie in een verschillend gen."},"pt":{"name":"Atrofia muscular espinhal com dificuldade respiratória tipo 2"},"pl":{"name":"Rdzeniowy zanik mięśni z niewydolnością oddechową typu 2","synonyms":["Ciężka dziecięca neuropatia aksonalna z niewydolnością oddechową typu 2","Rdzeniowy zanik mięśni przepony typu 2","Rdzeniowy zanik mięśni z niewydolnością oddechową sprzężony z chromosomem X","SMARD2"],"definition":"*Rdzeniowy zanik mięśni z niewydolnością oddechową typu 2 jest rzadką, genetycznie uwarunkowaną chorobą neuronu ruchowego, która charakteryzuje się wczesną, postępującą niewydolnością oddechową, związaną z porażeniem przepony, osłabieniem dystalnych mięśni, przykurczami stawów i hipotonią osiową z zachowanymi ruchami antygrawitacyjnymi kończyn. Fenotyp w znacznym stopniu nakłada się z SMARD typu 1, ale mutacje dotyczą innego genu."},"cs":{"name":"Spinální muskulární atrofie s respirační tísní, typ 2","synonyms":["Diafragmatická spinální muskulární atrofie, typ 2","SMARD2","Těžká infantilní axonální neuropatie s respiračním selháním, typ 2","X-vázaná spinální svalová atrofie s respirační tísní"]},"uk":{"name":"Спінальна мязова атрофія з респіраторним дистрес-синдромом, тип 2","synonyms":["Діафрагмальна спінальна мязова атрофія, тип 2","Тяжка дитяча аксональна нейропатія з дихальною недостатністю 2 типу","SMARD2","Х-зчеплена спінальна мязова атрофія з дихальними розладами"],"definition":"Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene."},"zh":{"name":"脊髓性肌萎缩伴呼吸窘迫2型","synonyms":["严重的小儿轴索神经病伴呼吸衰竭2型"],"definition":"伴有2型呼吸窘迫的脊髓性肌萎缩是一种罕见的遗传性运动神经元疾病，其特征是进行性早期呼吸衰竭，伴有横隔膜麻痹，远端肌无力，关节挛缩和轴向肌张力低下合并持续的反重力肢体运动。表型与SMARD 1型有相当多的重叠，可通过不同基因的突变来区分。"},"tr":{"name":"Solunum sıkıntısı tip 2 ile seyreden spinal müsküler atrofi","synonyms":["SMARD2","Diyafragmatik spinal kas atrofisi tip 2","Solunum sıkıntısı ile seyretmeyen X'e bağlı spinal müsküler atrofi","Solunum yetmezliği tip 2 ile seyretmeyen ağır infantil aksonal nöropati"]}},"xrefs":[{"source":"ICD-10","code":"G12.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018450","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749434","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":404538,"name":"X-linked distal hereditary motor neuropathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"LAS1L","name":"LAS1 like ribosome biogenesis factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24647030[PMID]","hgnc":"25726","ensembl":"ENSG00000001497","omim":"300964","loci":["Xq12"]}],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"24647030[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24647030[PMID]"}],"phenotypes":null}