{"orpha":83330,"name":"Proximal spinal muscular atrophy type 1","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Infantile spinal muscular atrophy","Infantile-onset spinal muscular atrophy","SMA type 1","SMA type I","SMA-I","SMA1","Werdnig-Hoffmann disease"],"definition":"A rare genetic motor neuron disorder characterized by degeneration of alpha motor neurons in the spinal cord and lower brainstem manifesting within the first six months of life with severe and progressive muscle weakness, including respiratory insufficiency and dysphagia. Classically, before the introduction of disease-modifying therapies, patients with proximal spinal muscular atrophy (SMA) type 1 never achieved independent sitting.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-83330/","orphanet_url":"https://www.orpha.net/en/disease/detail/83330","names":{"fr":{"name":"Amyotrophie spinale proximale type 1","synonyms":["Amyotrophie spinale infantile","Amyotrophie spinale à début infantile","Maladie de Werdnig-Hoffmann","SMA type 1","SMA type I","SMA-I","SMA1"],"definition":"Maladie génétique rare du motoneurone, caractérisée par une dégénérescence des motoneurones alpha de la moelle épinière et de la partie inférieure du tronc cérébral, se manifestant au cours des six premiers mois de vie par une faiblesse musculaire sévère et progressive, accompagnée d'une insuffisance respiratoire et d'une dysphagie. Avant l'apparition des traitements modificateurs de la maladie, les patients atteints d'amyotrophie spinale (SMA) proximale type 1 ne parvenaient jamais à s'asseoir de manière autonome."},"de":{"name":"Spinale Muskelatrophie, proximale, Typ 1","synonyms":["SMA Typ I","SMA-I","SMA1","Spinale Muskelatrophie, infantile","Werdnig-Hoffman-Krankheit","SMA Typ 1"],"definition":"Eine genetisch bedingte proximale spinale Muskelatrophie, die durch eine Degeneration der alpha-motorischen Neuronen in den Vorderhörnern des Rückenmarks und des unteren Hirnstamms gekennzeichnet ist. Sie manifestiert sich mit dem Beginn einer schweren und fortschreitenden Muskelschwäche in den ersten sechs Lebensmonaten und zeigt eine schwere, generalisierte Hypotonie und Schwäche. Dysphagie und Atembeschwerden können ebenfalls zu Beginn oder zu einem späteren Zeitpunkt auftreten. Vor der Einführung neuerer Therapien konnten Typ-1-Patienten in der Regel nie ohne Unterstützung sitzen."},"es":{"name":"Atrofia muscular espinal proximal tipo 1","synonyms":["AME tipo 1","AME tipo I","AME-I","AME1","Atrofia muscular espinal de inicio en la infancia","Atrofia muscular espinal infantil","Enfermedad de Werdnig-Hoffmann","SMA tipo 1","SMA tipo I","SMA-I","SMA1"],"definition":"Es una atrofia muscular espinal proximal, de origen genético y poco frecuente, caracterizada por la degeneración de las motoneuronas alfa en las astas anteriores de la médula espinal y en la región más inferior del tronco encefálico. Se manifiesta con el inicio de una debilidad muscular grave y progresiva en los primeros 6 meses de vida y se presenta con hipotonía y debilidad grave y generalizada. La disfagia y la afectación respiratoria también pueden estar presentes desde el inicio o aparecer en una fase posterior. Clásicamente, antes del advenimiento de las nuevas terapias, los pacientes de tipo 1 nunca lograban la sedestación independiente."},"it":{"name":"Atrofia muscolare spinale prossimale, tipo 1","synonyms":["Atrofia muscolare spinale ad esordio infantile","Atrofia muscolare spinale infantile","Malattia di Werdnig-Hoffmann","SMA, tipo 1","SMA, tipo I","SMA-I","SMA1"],"definition":"L'atrofia muscolare spinale prossimale tipo 1 (SMA1) è un'atrofia muscolare spinale prossimale rara, di origine genetica, caratterizzata dalla degenerazione dei motoneuroni alfa nelle corna anteriori del midollo spinale e del tronco encefalico inferiore, che esordisce nei primi 6 mesi di vita con debolezza muscolare grave e progressiva, e si manifesta con ipotonia e debolezza gravi e generalizzate. La disfagia e l'insufficienza respiratoria possono essere presenti all'esordio della malattia, oppure manifestarsi in una fase successiva. In genere, prima dell'avvento delle nuove terapie, i pazienti non acquisivano la capacità di sedersi autonomamente."},"nl":{"name":"Proximale spinale spieratrofie type 1","synonyms":["Infantiele spinale spieratrofie","SMA type 1","SMA type I","SMA-I","SMA1","Spinale musculaire atrofie met aanvang op zuigelingenleeftijd","Ziekte van Werdnig-Hoffmann"],"definition":"Een zeldzame genetische motorneuronziekte, gekenmerkt door degeneratie van alfa-motorneuronen in het ruggenmerg en het onderste deel van de hersenstam, die zich manifesteert binnen de eerste zes levensmaanden met ernstige en progressieve spierzwakte, waaronder respiratoire insufficiëntie en dysfagie. Voor de opkomst van ziektemodificerende therapieën slaagden patiënten met SMA type 1 er nooit in om zelfstandig te zitten."},"pt":{"name":"Atrofia muscular espinhal proximal tipo 1","synonyms":["Atrofia muscular espinhal infantil","Doença de Werdnig-Hoffman","SMA tipo 1"],"definition":"A atrofia muscular espinhal proximal tipo 1 (SMA1) é uma forma grave infantil de atrofia muscular espinhal proximal (ver este termo), caracterizada por fraqueza muscular grave e progressiva e hipotonia resultante da degeneração e perda dos neurónios motores inferiores da medula espinhal e do núcleo do tronco cerebral."},"pl":{"name":"Rdzeniowy zanik mięśni typu 1","synonyms":["Choroba Werdniga i Hoffmanna","Dziecięcy rdzeniowy zanik mięśni","SMA typu 1","SMA typu I","SMA1","SMA-I"]},"cs":{"name":"Proximální spinální svalová atrofie, typ 1","synonyms":["Infantilní spinální svalová atrofie","SMA typ 1","SMA typ I","SMA-I","SMA1","Werdnigova-Hoffmanova nemoc","Werdnig-Hoffmanova nemoc"]},"uk":{"name":"Проксимальна спінальна мязова атрофія, тип 1","synonyms":["Інфантильна спінальна мязова атрофія","Інфантильна спінальна мязова атрофія","SMA тип 1","SMA тип I","SMA1","SMA-I","Хвороба Вердніга-Гофмана"],"definition":"A rare, genetic proximal spinal muscular atrophy characterized by degeneration of alpha motor neurons in the anterior horns of the spinal cord and lower brain stem manifesting with onset of severe and progressive muscle weakness in the first 6 months of life and presenting with severe, generalized hypotonia and weakness,. Dysphagia and respiratory impairment may also be present at presentation or appear at a later stage. Classically, before the advent of recent therapies, type 1 patients never achieved sitting without support."},"zh":{"name":"近端脊髓肌萎缩1型","synonyms":["婴儿型脊髓性肌萎缩症"]},"tr":{"name":"Proksimal spinal kas atrofisi tip 1","synonyms":["SMA1","SMA-I","SMA türü 1","SMA tip I","Werdnig-Hoffmann hastalığı","İnfantil spinal kas atrofisi"]}},"xrefs":[{"source":"OMIM","code":"253300","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G12.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"8B61.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"915903258"},{"source":"MONDO","code":"0009669","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5848259","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7883","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":70,"name":"Proximal spinal muscular atrophy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SMN1","name":"survival of motor neuron 1, telomeric","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301526[PMID]","hgnc":"11117","ensembl":"ENSG00000172062","omim":"600354","loci":["5q13.2"]},{"symbol":"NAIP","name":"NLR family apoptosis inhibitory protein","gene_type":"gene with protein product","association":"Modifying germline mutation in","status":"Assessed","source":"11912351[PMID]","hgnc":"7634","ensembl":"ENSG00000249437","omim":"600355","loci":["5q13.2"]},{"symbol":"SMN2","name":"survival of motor neuron 2, centromeric","gene_type":"gene with protein product","association":"Modifying germline mutation in","status":"Assessed","source":"20301526[PMID]","hgnc":"11118","ensembl":"ENSG00000205571","omim":"601627","loci":["5q13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.26,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}