{"orpha":83419,"name":"Proximal spinal muscular atrophy type 3","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Juvenile spinal muscular atrophy","Kugelberg-Welander disease","SMA type 3","SMA type III","SMA-III","SMA3"],"definition":"A rare genetic motor neuron disorder characterized by degeneration of alpha motor neurons in the spinal cord and lower brainstem manifesting between 18 months and 18 years of age and associated with slowly progressive, predominantly proximal muscle weakness. By definition, individuals with proximal spinal muscular atrophy (SMA) type 3 achieve independent ambulation before symptom onset, but ambulation may be lost over the course of the disease.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-83419/","orphanet_url":"https://www.orpha.net/en/disease/detail/83419","names":{"fr":{"name":"Amyotrophie spinale proximale type 3","synonyms":["Amyotrophie spinale proximale juvénile","Maladie de Kugelberg-Welander","SMA type 3","SMA type III","SMA3"],"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 18 mois et de 18 ans et s'accompagnant d'une faiblesse musculaire à progression lente, touchant principalement les muscles proximaux. Par définition, les personnes atteintes d'amyotrophie spinale (SMA) type 3 parviennent à marcher de manière autonome avant l'apparition des symptômes, mais cette capacité peut disparaître au fur et à mesure de l'évolution de la maladie."},"de":{"name":"Spinale Muskelatrophie, proximale, Typ 3","synonyms":["Kugelberg-Welander-Krankheit","SMA Typ 3","SMA Typ III","SMA-III","SMA3","Spinale Muskelatrophie, juvenile"],"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 und sich durch eine fortschreitende proximale Muskelschwäche (Beine stärker als Arme) manifestiert. Die motorische Entwicklung ist uneinheitlich, aber das Gehen wird in der Regel erworben."},"es":{"name":"Atrofia muscular espinal proximal tipo 3","synonyms":["AME tipo 3","AME tipo III","AME-III","AME3","Atrofia muscular espinal juvenil","Enfermedad de Kugelberg-Welander","SMA tipo 3","SMA tipo III","SMA-III","SMA3"],"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 la aparición de debilidad muscular proximal progresiva (que afecta mayormente a las extremidades inferiores) entre los 18 meses y la edad adulta. El desarrollo motor es heterogéneo, aunque suele producirse una adquisición de la marcha."},"it":{"name":"Atrofia muscolare spinale prossimale, tipo 3","synonyms":["SMA, tipo 3","SMA, tipo III","SMA-III","SMA3","Atrofia muscolare spinale giovanile","Malattia di Kugelberg-Welander"],"definition":"L'atrofia muscolare spinale prossimale tipo 3 (SMA3) 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. La malattia esordisce tra i 18 mesi e l'età adulta con debolezza muscolare prossimale progressiva, che interessa maggiormente le gambe rispetto alle braccia. Lo sviluppo motorio è eterogeneo, e in genere i pazienti sono in grado di camminare."},"nl":{"name":"Proximale spinale spieratrofie type 3","synonyms":["Juveniele spinale spieratrofie","Proximale spinale musculaire atrofie type 3","SMA type 3","SMA type III","SMA-III","SMA3","Ziekte van Kugelberg-Welander"],"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 18 maanden en 18 jaar en die geassocieerd is met traag progressieve, hoofdzakelijk proximale spierzwakte. Per definitie bekomen individuen met proximale spinale musculaire atrofie (SMA) type 3 zelfstandig loopvermogen voor aanvang van de symptomen, maar het loopvermogen kan verloren gaan tijdens het verloop van de ziekte."},"pt":{"name":"Atrofia muscular espinhal proximal tipo 3","synonyms":["Atrofia muscular espinhal juvenil","Doença de Kugelberg-Welander"],"definition":"A atrofia muscular espinhal proximal tipo 3 (SMA3) é uma forma relativamente ligeira 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 3","synonyms":["Choroba Kugelberga i Welandera","Młodzieńczy rdzeniowy zanik mięśni","SMA typu 3","SMA typu III","SMA3","SMA-III"]},"cs":{"name":"Proximální spinální svalová atrofie, typ 3","synonyms":["Juvenilní spinální svalová atrofie","Kugelbergova-Welanderové nemoc","SMA typ 3","SMA typ III","SMA-III","SMA3","Kugelberg-Welanderové nemoc"]},"uk":{"name":"Проксимальна спінальна мязова атрофія, тип 3","synonyms":["Ювенільна спінальна мязова атрофія","Хвороба Кугельберга-Веландера","SMA тип 3","SMA тип III","SMA3","SMA-III"],"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 progressive proximal muscle weakness (legs greater than arms) between 18 months and adulthood. Motor development is heterogeneous but walking is typically acquired."},"zh":{"name":"近端脊髓肌萎缩3型","synonyms":["幼年型脊髓性肌萎缩"]},"tr":{"name":"Proksimal spinal kas atrofisi tip 3","synonyms":["SMA3","SMA-III","SMA tip 3","SMA tip III","Kugelberg-Welander hastalığı","jüvenil spinal kas atrofisi"]}},"xrefs":[{"source":"OMIM","code":"253400","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G12.1","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"8B61.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"677572815"},{"source":"MONDO","code":"0009672","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0152109","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"198","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":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.6623,"area":"Italy","status":"Validated","source":"1483045[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.61,"area":"Europe","status":"Validated","source":"28676062[PMID]_ORPHANET"}],"phenotypes":null}