{"orpha":83420,"name":"Proximal spinal muscular atrophy type 4","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["SMA type 4","SMA type IV","SMA-IV","SMA4","Spinal muscular atrophy, adult form"],"definition":"A rare genetic motor neuron disorder characterized by degeneration of alpha motor neurons in the spinal cord and lower brainstem. Proximal spinal muscular atrophy (SMA) type 4 is a rare subtype which manifests after 18 years of age with mild proximal muscle weakness.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-83420/","orphanet_url":"https://www.orpha.net/en/disease/detail/83420","names":{"fr":{"name":"Amyotrophie spinale proximale type 4","synonyms":["SMA4","Amyotrophie spinale proximale de l'adulte","SMA type 4","SMA type IV"],"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. L'amyotrophie spinale proximale (SMA) type 4 est un sous-type rare qui se manifeste après l'âge de 18 ans par une faiblesse musculaire proximale légère."},"de":{"name":"Spinale Muskelatrophie, proximale, Typ 4","synonyms":["SMA Typ 4","SMA Typ IV","SMA-IV","SMA4","Spinale Muskelatrophie, adulte"],"definition":"Eine genetisch bedingte proximale spinale Muskelatrophie, die durch eine Degeneration der Alpha-Motorneuronen in den Vorderhörnern des Rückenmarks und im unteren Hirnstamm gekennzeichnet ist und im Erwachsenenalter zu einer langsam fortschreitenden leichten proximalen Muskelschwäche führt."},"es":{"name":"Atrofia muscular espinal proximal tipo 4","synonyms":["AME tipo 4","AME tipo IV","AME-IV","AME4","Atrofia muscular espinal del adulto","SMA tipo 4","SMA tipo IV","SMA-IV","SMA4"],"definition":"Es una atrofia muscular espinal proximal, de origen genético y poco frecuente, caracterizada por la degeneración de las motoneuronas alfa de las astas anteriores de la médula espinal y de la región más inferior del tronco encefálico, y que se manifiesta con debilidad muscular proximal leve lentamente progresiva en la edad adulta."},"it":{"name":"Atrofia muscolare spinale prossimale, tipo 4","synonyms":["Atrofia muscolare spinale, forma dell'adulto","SMA, tipo 4","SMA, tipo IV","SMA-IV","SMA4"],"definition":"Si tratta di 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 si manifesta nell'età adulta con lieve debolezza dei muscoli prossimali a progressione lenta."},"nl":{"name":"Proximale spinale spieratrofie type 4","synonyms":["Proximale spinale musculaire atrofie type 4","SMA type 4","SMA type IV","SMA-IV","SMA4","Spinale musculaire atrofie, volwassen vorm","Spinale spieratrofie, volwassen vorm"],"definition":"Een zeldzame genetische motorneuronziekte, gekenmerkt door degeneratie van alfa-motorneuronen in het ruggenmerg en het onderste deel van de hersenstam. Proximale spinale musculaire atrofie (SMA) type 4 is een zeldzaam subtype dat zich manifesteert na de leeftijd van 18 jaar met milde proximale spierzwakte."},"pt":{"name":"Atrofia muscular espinhal proximal tipo 4","synonyms":["Atrofia muscular espinhal do adulto"],"definition":"A atrofia muscular espinhal proximal tipo 4 (SMA4) é a forma de atrofia espinhal muscular proximal de apresentação no adulto (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 4","synonyms":["Rdzeniowy zanik mięśni, postać dorosła","SMA typu 4","SMA typu IV","SMA4","SMA-IV"]},"cs":{"name":"Proximální spinální svalová atrofie, typ 4","synonyms":["SMA typ 4","SMA typ IV","SMA-IV","SMA4","Spinální svalová atrofie, adultní forma"]},"uk":{"name":"Проксимальна спінальна мязова атрофія, тип 4","synonyms":["SMA тип 4","SMA типу IV","SMA4","SMA-IV","Спинальна мязова атрофія, доросла форма"],"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 adult onset, slowly progressive, mild proximal muscle weakness."},"zh":{"name":"近端脊髓肌萎缩4型","synonyms":["成年型脊髓性肌萎缩症"]},"tr":{"name":"Proksimal spinal kas atrofisi tip 4","synonyms":["SMA4","SMA-IV","SMA tip 4","SMA tip IV","Spinal kas atrofisi, Erişkin formu"]}},"xrefs":[{"source":"OMIM","code":"271150","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G12.1","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"8B61.3","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"443229384"},{"source":"MONDO","code":"0010056","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563948","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1838230","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":"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":["Adult"],"prevalence":[{"type":"Annual incidence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"}],"phenotypes":null}