{"orpha":70,"name":"Proximal spinal muscular atrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SMA"],"definition":"A group of rare genetic motor neuron disorders caused by degeneration of alpha motor neurons in the spinal cord and lower brainstem. It leads to progressive muscle weakness predominantly affecting proximal lower limb muscles. Severity varies from severe infantile-onset forms to milder, slowly progressive adult-onset types.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-70/","orphanet_url":"https://www.orpha.net/en/disease/detail/70","names":{"fr":{"name":"Amyotrophie spinale proximale","synonyms":["ASA","SMA"],"definition":"Groupe de maladies génétiques rares du motoneurone, causées par la dégénérescence des motoneurones alpha de la moelle épinière et de la partie inférieure du tronc cérébral. La maladie entraîne une faiblesse musculaire progressive touchant principalement les muscles proximaux des membres inférieurs. La sévérité varie, allant de formes sévères apparaissant dès la petite enfance à des formes plus bénignes, à évolution lente, se manifestant à l'âge adulte."},"de":{"name":"Spinale Muskelatrophie, proximale","synonyms":["SMA"],"definition":"Die proximalen spinalen Muskelatrophien sind eine Gruppe neuromuskulärer Krankheiten mit fortschreitender Muskelschwäche als Folge einer Degeneration oder eines Verlustes der unteren Motorneurone im Rückenmark (Vorderhornzellen) und in den Kernen des Hirnstamms."},"es":{"name":"Atrofia muscular espinal proximal","synonyms":["AME","SMA"],"definition":"Las atrofias musculares espinales proximales son un grupo de trastornos musculares caracterizados por una debilidad muscular progresiva resultado de una degeneración y pérdida de las neuronas motoras inferiores en la médula espinal y en los núcleos del tronco encefálico."},"it":{"name":"Atrofia muscolare spinale prossimale","synonyms":["SMA"]},"nl":{"name":"Proximale spinale spieratrofie","synonyms":["Proximale spinale musculaire atrofie","SMA"],"definition":"Een groep van zeldzame genetische motorneuronziekten, gekenmerkt door degeneratie van alfa-motorneuronen in het ruggenmerg en het onderste deel van de hersenstam. Het leidt tot progressieve spierzwakte die hoofdzakelijk spieren van proximale onderste ledematen aantast. De ernst varieert van ernstige infantiel optredende vormen tot mildere, traag progressieve types met aanvang in de volwassenheid."},"pt":{"name":"Atrofia muscular espinhal proximal","synonyms":["SMA"],"definition":"As atrofias musculares espinhais proximais são um grupo de doenças neuromusculares caracterizadas por fraqueza muscular progressiva resultante da degeneração e perda dos neurónios motores inferiores da medula espinhal e do núcleo do tronco cerebral."},"pl":{"name":"Rdzeniowy zanik mięśni","synonyms":["SMA"],"definition":"Grupa zaburzeń nerwowo-mięśniowych charakteryzujących się postępującym osłabieniem mięśni wskutek zwyrodnienia i utraty dolnych neuronów ruchowych w rdzeniu kręgowym i jądrach pnia mózgu."},"cs":{"name":"Proximální spinální svalová atrofie","synonyms":["SMA","Spinální muskulární atrofie"],"definition":"Spinální muskulární atrofie (SMA) je skupinou nervosvalových poruch, vyznačujících se progresivní svalovou slabostí v důsledku degenerace a ztráty nižších motorických neuronů v míše a v jádrech mozkového kmene."},"uk":{"name":"Проксимальна спінальна мязова атрофія","synonyms":["SMA"],"definition":"A group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei."},"zh":{"name":"近端脊髓性肌萎缩","synonyms":["SMA"]},"tr":{"name":"Proksimal spinal kas atrofisi","synonyms":["SMA"]}},"xrefs":[{"source":"OMIM","code":"253300","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"253400","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"253550","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"271150","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G12.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"G12.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8B61.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"648986756"},{"source":"MONDO","code":"0019079","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4024957","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4531","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98505,"name":"Genetic motor neuron disease","classifications":[156,181]}],"children":[{"orpha":83330,"name":"Proximal spinal muscular atrophy type 1","type":"Clinical subtype"},{"orpha":83418,"name":"Proximal spinal muscular atrophy type 2","type":"Clinical subtype"},{"orpha":83419,"name":"Proximal spinal muscular atrophy type 3","type":"Clinical subtype"},{"orpha":83420,"name":"Proximal spinal muscular atrophy type 4","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":83330,"name":"Proximal spinal muscular atrophy type 1"}},{"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"],"via":{"orpha":83418,"name":"Proximal spinal muscular atrophy type 2"}},{"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"],"via":{"orpha":83419,"name":"Proximal spinal muscular atrophy type 3"}},{"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"],"via":{"orpha":83420,"name":"Proximal spinal muscular atrophy type 4"}},{"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"],"via":{"orpha":83330,"name":"Proximal spinal muscular atrophy type 1"}},{"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"],"via":{"orpha":83418,"name":"Proximal spinal muscular atrophy type 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"],"via":{"orpha":83419,"name":"Proximal spinal muscular atrophy type 3"}},{"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"],"via":{"orpha":83330,"name":"Proximal spinal muscular atrophy type 1"}},{"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"],"via":{"orpha":83418,"name":"Proximal spinal muscular atrophy type 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"],"via":{"orpha":83419,"name":"Proximal spinal muscular atrophy type 3"}},{"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"],"via":{"orpha":83420,"name":"Proximal spinal muscular atrophy type 4"}}],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":2.6,"area":"Europe","status":"Validated","source":"European Medicines Agency[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":20.0,"area":"Europe","status":"Not yet validated","source":"23107878[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-04-12","source":"20301526[PMID]_29478602[PMID]","terms":[{"hpo":"HP:0003701","label":"Proximal muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003327","label":"Axial muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001283","label":"Bulbar palsy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003551","label":"Difficulty climbing stairs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009046","label":"Difficulty running","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002460","label":"Distal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004878","label":"Intercostal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002643","label":"Neonatal respiratory distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002033","label":"Poor suck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003731","label":"Quadriceps muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002100","label":"Recurrent aspiration pneumonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004891","label":"Recurrent infections due to aspiration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002747","label":"Respiratory insufficiency due to muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001308","label":"Tongue fasciculations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031108","label":"Triceps weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030319","label":"Weakness of facial musculature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006844","label":"Absent patellar reflexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001558","label":"Decreased fetal movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003698","label":"Difficulty standing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009053","label":"Distal lower limb muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008959","label":"Distal upper limb muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001349","label":"Facial diplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002578","label":"Gastroparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002791","label":"Hypoventilation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006380","label":"Knee flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002828","label":"Multiple joint contractures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002421","label":"Poor head control","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002091","label":"Restrictive ventilatory defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002942","label":"Thoracic kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001662","label":"Bradycardia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002987","label":"Elbow flexion contracture","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001942","label":"Metabolic acidosis","frequency":"Very rare (<4-1%)","criteria":null}]}}