{"orpha":97244,"name":"Rigid spine syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Rigid spine congenital muscular dystrophy"],"definition":"Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-97244/","orphanet_url":"https://www.orpha.net/en/disease/detail/97244","names":{"fr":{"name":"Syndrome de la colonne raide","synonyms":["Rigid spine syndrome","Syndrome du rachis raide"],"definition":"Le syndrome de la colonne raide est une dystrophie musculaire congénitale lentement progressive, apparaissant chez l'enfant. Il se caractérise par des contractures des muscles extenseurs spinaux associées à une posture anormale (limitation de la flexion du cou et du tronc), une scoliose progressive de la colonne vertébrale, une faiblesse musculaire cervico-axiale précoce et prononcée, avec préservation relative de la force et de la fonction des extrémités, et une insuffisance respiratoire progressive."},"de":{"name":"Rigid-Spine-Syndrom"},"es":{"name":"Síndrome de columna rígida","definition":"Es una distrofia muscular congénita de aparición en la infancia lentamente progresiva caracterizada por contracturas de los músculos extensores de la columna asociadas con una postura anómala (limitación de la flexión del cuello y el tronco), escoliosis progresiva de la columna, debilidad de los músculos cervico-axiales con fuerza y ​​función relativamente conservadas de las extremidades e insuficiencia respiratoria progresiva."},"it":{"name":"Sindrome della colonna rigida"},"nl":{"name":"Rigide wervelkolom-syndroom","definition":"Onbuigzame wervelkolomsyndroom (RSS) is een traag progressieve congenitale spierdystrofie (zie deze term) met aanvang in de kindertijd die wordt gekarakteriseerd door contracturen van de strekspieren van de wervelkolom en is geassocieerd met een abnormale lichaamshouding (beperkte flexie van de nek en romp), progressieve scoliose van de wervelkolom, vroege zwakheid van cervico-axiale spieren met relatief behoud van kracht en functie van de ledematen, en progressieve ademhalingsstoornissen."},"pt":{"name":"Síndrome da coluna rígida"},"pl":{"name":"Zespół \"sztywnego kręgosłupa\" ( Rigid spine syndrome )","synonyms":["Rigid spine congenital muscular dystrophy"]},"cs":{"name":"Syndrom rigidní páteře","synonyms":["Vrozená svalová dystrofie se spinální rigiditou"]},"uk":{"name":"Синдром ригідного хребта","synonyms":["Вроджена мязова дистрофія хребта з ригідністю"],"definition":"Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency."},"zh":{"name":"强直脊柱综合征","synonyms":["强直脊柱先天性肌萎缩"],"definition":"僵硬脊柱综合征（RSS）是一种儿童期起病、缓慢发展的先天性肌营养不良（见该词条），其特征是脊柱伸肌挛缩伴异常姿势（颈部和躯干弯曲受限）、进行性脊柱侧凸，早期明显的颈轴肌无力，四肢力量和功能相对保留，进行性呼吸功能不全。"},"tr":{"name":"Sert omurga sendromu","synonyms":["Rijit omurga doğumsal kas distrofisi"]}},"xrefs":[{"source":"OMIM","code":"602771","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620265","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C70.6","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"801727141"},{"source":"MONDO","code":"0019951","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535683","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0410180","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4723","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":97242,"name":"Congenital muscular dystrophy","classifications":[156,181]},{"orpha":209041,"name":"Qualitative or quantitative defects of desmin","classifications":[156]},{"orpha":209193,"name":"Qualitative or quantitative defects of selenoprotein N1","classifications":[156]}],"children":[],"genes":[{"symbol":"ACTA1","name":"actin alpha 1, skeletal muscle","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25182138[PMID]","hgnc":"129","ensembl":"ENSG00000143632","omim":"102610","loci":["1q42.13"]},{"symbol":"SELENON","name":"selenoprotein N","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301468[PMID]_11528383[PMID]","hgnc":"15999","ensembl":"ENSG00000162430","omim":"606210","loci":["1p36.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.13,"area":"United Kingdom","status":"Validated","source":"19767415[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-01-17","source":"10665485[PMID]","terms":[{"hpo":"HP:0011842","label":"Abnormality of skeletal morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000467","label":"Neck muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003306","label":"Spinal rigidity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030878","label":"Abnormality on pulmonary function testing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031546","label":"Cardiac conduction abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002987","label":"Elbow flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003089","label":"Hamstring contractures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003273","label":"Hip contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002090","label":"Pneumonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002421","label":"Poor head control","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003391","label":"Gowers sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002515","label":"Waddling gait","frequency":"Occasional (29-5%)","criteria":null}]}}