{"orpha":83418,"name":"Proximal spinal muscular atrophy type 2","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Intermediate spinal muscular atrophy","SMA type 2","SMA type II","SMA-II","SMA2"],"definition":"A rare genetic motor neuron disorder characterized by degeneration of alpha motor neurons in the spinal cord and lower brainstem manifesting between 6 and 18 months of age with progressive, predominantly proximal muscle weakness. Classically, before the introduction of disease-modifying therapies, patients with proximal spinal muscular atrophy (SMA) type 2 learned to sit, but never achieved independent ambulation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-83418/","orphanet_url":"https://www.orpha.net/en/disease/detail/83418","names":{"fr":{"name":"Amyotrophie spinale proximale type 2","synonyms":["Amyotrophie spinale intermédiaire","SMA type 2","SMA type II","SMA-II","SMA2"],"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 entre l'âge de 6 et de 18 mois, par une faiblesse musculaire progressive touchant principalement les muscles proximaux. Avant l'apparition des traitements modificateurs de la maladie, les patients atteints d'amyotrophie spinale proximale (SMA) type 2 apprenaient à s'asseoir, mais ne parvenaient jamais à marcher de manière autonome."},"de":{"name":"Spinale Muskelatrophie, proximale, Typ 2","synonyms":["SMA Typ 2","SMA Typ II","SMA-II","SMA2","Spinale Muskelatrophie, intermediäre"],"definition":"Eine genetisch bedingte proximale spinale Muskelatrophie, die durch eine Degeneration der Alpha-Motorneuronen in den Vorderhörnern des Rückenmarks und des unteren Hirnstamms gekennzeichnet ist. Sie beginnt im Alter von 6 bis 18 Monaten mit fortschreitender proximaler Muskelschwäche, leichter bis mittelschwerer Hypotonie und polymyoklonorischem Fingertremor mit Areflexie. Die motorischen Meilensteine beschränken sich in der Regel auf unabhängiges Sitzen oder Stehen."},"es":{"name":"Atrofia muscular espinal proximal tipo 2","synonyms":["AME tipo 2","AME tipo II","AME-II","AME2","Atrofia muscular espinal intermedia","SMA tipo 2","SMA tipo II","SMA-II","SMA2"],"definition":"Es una atrofia muscular espinal proximal, poco frecuente y de base genética, caracterizada por la degeneración de las motoneuronas alfa del asta anterior de la médula espinal y del tronco encefálico inferior. Se manifiesta con un inicio entre los 6 y los 18 meses de edad, con debilidad muscular proximal progresiva, hipotonía de leve a moderada y temblor polimioclónico de los dedos de la mano con arreflexia. Los hitos del desarrollo motor se limitan clásicamente a la sedestación o a la bipedestación independientes."},"it":{"name":"Atrofia muscolare spinale prossimale, tipo 2","synonyms":["SMA, tipo 2","SMA, tipo II","SMA-II","SMA2","Atrofia muscolare spinale intermedia"],"definition":"L'atrofia muscolare spinale prossimale tipo 2 (SMA2) 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 tra i 6 e i 18 mesi di vita con debolezza progressiva dei muscoli prossimali, ipotonia lieve-moderata, tremore polimioclonale delle dita e areflessia. Di solito lo sviluppo delle principali competenze motorie si limita all'acquisizione della posizione seduta o eretta indipendente."},"nl":{"name":"Proximale spinale spieratrofie type 2","synonyms":["Intermediaire spinale spieratrofie","SMA type 2","SMA type II","SMA-II","SMA2"],"definition":"Een zeldzame genetische motorneuronziekte, gekenmerkt door degeneratie van alfa-motorneuronen in ruggenmerg en onderste deel van de hersenstam die zich manifesteert op een leeftijd tussen 6 en 18 maanden met progressieve, hoofdzakelijk proximale spierzwakte. Voor de introductie van ziektemodificerende therapieën leerden patiënten met proximale spinale musculaire atrofie (SMA) type 2 zitten, maar behaalden zij nooit zelfstandig loopvermogen."},"pt":{"name":"Atrofia muscular espinhal proximal tipo 2","synonyms":["Atrofia muscular espinhal crónica","Atrofia muscular espinhal intermédia","SMA tipo 2"],"definition":"A atrofia muscular espinhal proximal tipo de 2 (SMA2) é uma forma crónica infantil de atrofia muscular espinhal proximal (ver este termo), caracterizada por fraqueza muscular 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 2","synonyms":["Pośredni rdzeniowy zanik mięśni","Przewlekły dziecięcy rdzeniowy zanik mięśni","Przewlekły rdzeniowy zanik mięśni","SMA typu 2","SMA typu II","SMA2","SMA-II"]},"cs":{"name":"Proximální spinální svalová atrofie, typ 2","synonyms":["Chronická infantilní spinální svalová atrofie","Chronická spinální svalová atrofie","SMA typ 2","SMA typ II","SMA-II","SMA2","Středně závažná spinální svalová atrofie"]},"uk":{"name":"Проксимальна спінальна мязова атрофія, тип 2","synonyms":["Проміжна спінальна мязова атрофія","SMA тип 2","SMA тип II","SMA2","SMA-II"],"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 between 6 to 18 months of age with progressive, proximal muscle weakness, mild to moderate hypotonia and finger polymyoclonour tremor, with areflexia. Motor milestones are classically limited to independent sitting or standing."},"zh":{"name":"近端脊髓肌萎缩2型","synonyms":["慢性婴儿型脊髓性肌萎缩症"]},"tr":{"name":"Proksimal spinal kas atrofisi tip 2","synonyms":["SMA2","SMA-II","SMA tip 2","SMA tip II","Kronik spinal kas atrofisi","Orta dereceli spinal kas atrofi","Kronik infantil spinal kas atrofisi"]}},"xrefs":[{"source":"OMIM","code":"253550","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G12.1","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"8B61.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"867148636"},{"source":"MONDO","code":"0009673","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0393538","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4945","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"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"Europe","status":"Validated","source":"10677857[PMID]_1483045[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":2.0322,"area":"Worldwide","status":"Validated","source":"28676062[PMID]_ORPHANET"}],"phenotypes":null}