{"orpha":98920,"name":"Spinal muscular atrophy with respiratory distress type 1","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive distal spinal muscular atrophy type 1","Autosomal recessive spinal muscular atrophy with respiratory distress","Diaphragmatic spinal muscular atrophy","Distal hereditary motor neuropathy type 6","Distal-HMN type 6","SIANRF","SMARD1","Severe infantile axonal neuropathy with respiratory failure type 1","dHMN6","dSMA1"],"definition":"Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98920/","orphanet_url":"https://www.orpha.net/en/disease/detail/98920","names":{"fr":{"name":"Amyotrophie spinale avec détresse respiratoire type 1","synonyms":["Amyotrophie spinale autosomique récessive avec détresse respiratoire","Amyotrophie spinale diaphragmatique type 1","Amyotrophie spinale distale autosomique récessive type 1","Atrophie musculaire spinale distale autosomique récessive type 1","Neuropathie axonale infantile sévère avec insuffisance respiratoire type 1","Neuropathie motrice distale héréditaire type 6","SIANRF","SMARD1","dHMN6","dSMA1"],"definition":"Une maladie génétique rare affectant les motoneurones, caractérisée par une détresse/insuffisance respiratoire sévère associée à une éventration et une paralysie diaphragmatique, ainsi qu'une faiblesse et une atrophie progressives et symétriques des muscles distaux à proximaux (surtout au niveau des membres inférieurs). Les patients ont des antécédents de retard de croissance intra-utérine, un faible poids à la naissance, des cris faibles, une faible succion et un retard de croissance staturo-pondérale, et présentent un stridor à l'inspiration, des épisodes récurrents de dyspnée ou d'apnée, une cyanose et des réflexes tendineux profonds absents. Une cyphose/scoliose, des anomalies des pieds et des contractures articulaires sont fréquemment associées."},"de":{"name":"Spinale Muskelatrophie mit Atemnot Typ 1","synonyms":["Autosomal-rezessive distale spinale Muskelatrophie Typ 1","Distale HMN Typ 6","Neuropathie, distale hereditäre motorische, Typ 6","SIANRF","SMA mit Atemnot","SMARD1","Schwere infantile axonale Neuropathie mit Atemversagen","Spinale Muskelatrophie, diaphragmatische","dHMN6","dSMA1"]},"es":{"name":"Atrofia muscular espinal con dificultad respiratoria tipo 1","synonyms":["Atrofia muscular espinal autosómica recesiva con dificultad respiratoria","Atrofia muscular espinal con distrés respiratorio tipo 1","Atrofia muscular espinal diafragmática","Neuropatía axonal grave del lactante con insuficiencia respiratoria tipo 1","Neuropatía motora distal hereditaria tipo 6","dHMN6","dSMA1"],"definition":"Es una enfermedad de neurona motora genética poco frecuente caracterizada por insuficiencia/fallo respiratorio grave asociado a eventración y parálisis diafragmática, así como debilidad y atrofia muscular simétrica progresiva, de distal a proximal (principalmente en las extremidades inferiores). Los afectados suelen tener una historia de retraso del crecimiento intrauterino, bajo peso al nacer, llanto débil, succión débil y fallo de medro y presentan estridor inspiratorio, episodios recurrentes de disnea o apnea, cianosis y ausencia de reflejos tendinosos profundos. Con frecuencia se asocian otras características como cifosis / escoliosis, malformaciones del pie y contracturas articulares."},"it":{"name":"Atrofia muscolare spinale con distress respiratorio, tipo 1","synonyms":["Atrofia muscolare spinale autosomica recessiva con distress respiratorio","Atrofia muscolare spinale diaframmatica","Atrofia muscolare spinale distale, autosomica recessiva, tipo 1","HMN distale, tipo 6","Neuropatia assonale infantile grave con insufficienza respiratoria, tipo 1","Neuropatia motoria ereditaria distale, tipo 6","SIANRF","SMARD1","dHMN6","dSMA1"],"definition":"L'atrofia muscolare spinale con distress respiratorio tipo 1 è una malattia genetica rara dei motoneuroni, caratterizzata da grave distress/insufficienza respiratoria, associata ad eventrazione e paralisi del diaframma, debolezza e atrofia simmetrica e progressiva dei muscoli distali e prossimali, in particolare degli arti inferiori. Di solito i pazienti hanno un'anamnesi positiva per ritardo della crescita prenatale, scarso peso alla nascita, pianto e suzione deboli e ritardo della crescita; presentano inoltre stridore inspiratorio, episodi ricorrenti di dispnea o apnea, cianosi e assenza dei riflessi tendinei profondi. Spesso si osservano cifosi/scoliosi, deformità dei piedi e contratture articolari."},"nl":{"name":"Spinale spieratrofie met ademhalingsnood type 1","synonyms":["Autosomaal recessieve distale spinale spieratrofie type 1","Autosomaal recessieve spinale spieratrofie met ademnood","Diafragmatische spinale spieratrofie","Distale HMN type 6","Distale hereditaire motorische neuropathie type 6","Ernstige infantiele axonale neuropathie met respiratoir falen type 1","SIANRF","SMARD1","dHMN6","dSMA1"],"definition":"Spinale musculaire atrofie met respiratoire insufficiëntie type 1 is een zeldzame, genetische motorneuronziekte die gekarakteriseerd wordt door ernstige ademhalingsproblemen/respiratoire insufficiëntie geassocieerd met eventratie en paralyse van het diafragma, alsook door progressieve, symmetrische, distale-naar-proximale spierzwakte en -atrofie (voornamelijk aan de onderste ledematen). Doorgaans hebben patiënten een voorgeschiedenis van intra-uteriene groeiretardatie, laag geboortegewicht, zwak gehuil, weinig zuigkracht en groeiachterstand, en vertonen ze inspiratoire stridor, recurrente episodes van dyspneu of apneu, cyanose en afwezige diepe peesreflexen. Kyfose/scoliose, voetmisvormingen en gewrichtscontracturen zijn frequent geassocieerde kenmerken."},"pt":{"name":"Atrofia muscular espinhal com dificuldade respiratória tipo 1"},"pl":{"name":"Rdzeniowy zanik mięśni z niewydolnością oddechową typu 1","synonyms":["Autosomal recessive distal spinal muscular atrophy type 1","Autosomalny recesywny dystalny rdzeniowy zanik mięśni typu 1","Autosomalny recesywny rdzeniowy zanik mięśni z niewydolnością oddechową","dHMN6","dSMA1","Dystalna dziedziczna neuropatia ruchowa typu 6","Dystalna-HMN typu 6","Rdzeniowy zanik mięśni przepony","SIANRF","SMARD1"],"definition":"*Rdzeniowy zanik mięśni z niewydolnością oddechową typu 1 jest rzadką, genetycznie uwarunkowaną chorobą neuronu ruchowego, która charakteryzuje się ciężkimi zaburzeniem oddychania/niewydolnością oddechową z towarzyszącym porażeniem przepony, oraz postępującym, symetrycznym osłabieniem i zanikiem mięśni - od mięśni dystalnych do proksymalnych (zwłaszcza w dolnych kończynach). Wywiad wskazuje na opóźnienie wzrastania wewnątrzmacicznego, niską masę urodzeniową, cichy płacz, słaby odruch ssania i brak prawidłowego rozwoju oraz świst wdechowy, nawracające epizody duszności lub bezdechu, sinicę i brak głębokich odruchów ścięgnistych. Często występuje pogłębiona kifoza/skolioza, deformacje stóp i przykurcze stawów."},"cs":{"name":"Spinální svalová atrofie s respirační tísní, typ 1","synonyms":["Autozomálne recesivní spinální svalová atrofie s respiracní tísní","Diafragmatická spinální svalová atrofie","Distální hereditární motorická neuropatie, typ 6","Distální HMN, typ 6","SIANRF","SMARD1","dHMN6","dSMA1","Autozomálně recesivní distální spinální svalová atrofie, typ 1","Autozomálně recesivní spinální svalová atrofie s respirační tísní","Těžká infantilní axonální neuropatie s respiračním selháním, typ 1"]},"uk":{"name":"Спінальна мязова атрофія з респіраторним дистрессом, тип 1","synonyms":["Аутосомно-рецесивна дистальна спінальна мязова атрофія, тип 1","Аутосомно-рецесивна спінальна мязова атрофія з дихальними розладами","dHMN6","Атрофія діафрагмальних мязів хребта","Дистальна спадкова моторна нейропатія типу 6","Дистальний HMN тип 6","dSMA1","Тяжка дитяча аксональна нейропатія з дихальною недостатністю 1-го типу","SIANRF","SMARD1"],"definition":"Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features."},"zh":{"name":"脊髓性肌萎缩症伴呼吸窘迫1型","synonyms":["常染色体隐性遗传脊髓性肌肉萎缩伴呼吸衰竭"],"definition":"脊髓性肌萎缩症合并呼吸窘迫1型是一种罕见的遗传性运动神经元病，其特征是严重的呼吸窘迫/呼吸衰竭，并伴有膈肌突出和瘫痪，以及进行性的对称性远端到近端肌肉无力和萎缩(尤其是下肢)。患者通常有胎儿宫内发育迟缓、出生体重低、哭声微弱、吸吮无力和发育不良的病史，并伴有吸气性喘鸣、复发性呼吸困难或呼吸暂停、紫绀和深肌腱反射缺失，脊柱后凸/脊柱侧凸、足部畸形和关节挛缩也是常见的相关特征。"},"tr":{"name":"Solunum sıkıntısı tip 1ile seyreden spinal kas atrofisi","synonyms":["dHMN6","dSMA1","SIANRF","SMARD1","Distal-HMN tip 6","Diyafragmatik spinal kas atrofisi","Distal kalıtsal motor nöropati tip 6","Otozomal Çekinik distal spinal kas atrofisi tip 1","Solunum yetmezliği tip 1 ile ağır infantil aksonal nöropati","Solunum sıkıntısı ile birlikte otozomal çekinik spinal kas atrofi"]}},"xrefs":[{"source":"OMIM","code":"604320","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G12.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8B61.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"368492087"},{"source":"MONDO","code":"0011436","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536880","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1858517","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8592","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":140468,"name":"Autosomal recessive distal hereditary motor neuropathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"IGHMBP2","name":"immunoglobulin mu DNA binding protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11528396[PMID]","hgnc":"5542","ensembl":"ENSG00000132740","omim":"600502","loci":["11q13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":128.0,"area":"Worldwide","status":"Validated","source":"26709713[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26709713[PMID]"}],"phenotypes":null}