{"orpha":1320,"name":"Idiopathic camptocormia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Idiopathic camptocormism","Idiopathic progressive lumbar kyphosis"],"definition":"Idiopathic camptocormia is a postural disease characterized by an anterior flexion of the torso (during walking or standing) that resolves in the supine position and that is caused by weakness of the lumbar paraspinal muscles (spinal extensors), due to massive fatty infiltrations of posterior spinal muscles, without an identifiable etiology.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1320/","orphanet_url":"https://www.orpha.net/en/disease/detail/1320","names":{"fr":{"name":"Camptocormie idiopathique","synonyms":["Camptocormisme idiopathique","Cyphose lombaire progressive idiopathique"],"definition":"La camptocormie idiopathique est un trouble postural caractérisé par une flexion antérieure du tronc (à la station debout et à la marche) réductible en décubitus et au redressement du tronc. Elle est liée à une insuffisance musculaire paravertébrale lombaire (extenseurs spinaux), touche surtout les femmes de plus de 60 ans. Elle est caractérisée par une involution graisseuse des muscles spinaux postérieurs (IRM). L'électromyogramme peut révéler des anomalies myogènes ou neurogènes et la biopsie musculaire, une adipose avec fibrose endomysiale. L'enquête étiologique est indispensable pour écarter une camptocormie secondaire (maladie de Parkinson, SLA, myopathies, dystonies, maladies endocriniennes, canal lombaire étroit ou rétréci, syndromes paranéoplasiques...). Le traitement repose sur la rééducation et la contention anti-cyphose sur mesure."},"de":{"name":"Kamptokormie, idiopathische","synonyms":["Idiopathische progressive Lendenkyphose"]},"es":{"name":"Camptocormia idiopática","synonyms":["Camptocormismo idiopático","Cifosis lumbar idiopática progresiva"],"definition":"Es una enfermedad postural caracterizada por una flexión anterior del torso (durante la marcha o en bipedestación) que se resuelve en la posición supina y que se produce por debilidad de los músculos paravertebrales de la región lumbar (músculos espinales extensores), debido a infiltraciones masivas de tejido adiposo en los músculos espinales posteriores, sin una etiología conocida."},"it":{"name":"Camptocormia idiopatica","synonyms":["Camptocormismo idiopatico","Cifosi lombare progressiva idiopatica"],"definition":"La camptocormia idiopatica è una malattia posturale caratterizzata dalla flessione anteriore del busto (quando il soggetto cammina o ha una posizione eretta), che scompare nella posizione supina ed è causata dalla debolezza dei muscoli paraspinali lombari (estensori spinali), secondaria a massive infiltrazioni di grasso nei muscoli spinali posteriori. L'eziologia non è nota."},"nl":{"name":"Idiopathische camptocormie","synonyms":["Idiopathische progressieve lumbale kyfose"],"definition":"Idiopathische camptocormie is een posturale ziekte en wordt gekarakteriseerd door een anterieure flexie van het torso (tijdens het stappen of het staan) die verdwijnt in rugligging en die veroorzaakt wordt door zwakte van de lumbale paraspinale spieren (spinale strekspieren), ten gevolge van massale vetinfiltraties in de posterieure spinale spieren, zonder een identificeerbare etiologie."},"pt":{"name":"Camptocormia idiopática","synonyms":["Camptocormismo idiopático","Cifose lombar idiopática progressiva"]},"pl":{"name":"Kamptokormia","synonyms":["Kamptokormia"]},"cs":{"name":"Idiopatická kamptokormie","synonyms":["Idiopatický kamptokormismus","Idiopatická progresivní lumbární kyfóza"]},"uk":{"name":"Ідіопатична кампокормія","synonyms":["Ідіопатичний кампокормізм","Ідіопатичний прогресуючий поперековий кіфоз"],"definition":"Idiopathic camptocormia is a postural disease characterized by an anterior flexion of the torso (during walking or standing) that resolves in the supine position and that is caused by weakness of the lumbar paraspinal muscles (spinal extensors), due to massive fatty infiltrations of posterior spinal muscles, without an identifiable etiology."},"zh":{"name":"特发性躯干前曲症","synonyms":["特发性进行性腰椎后凸"]},"tr":{"name":"İdiyopatik kamptocormi","synonyms":["İdiyopatik kamptocormism","İdiyopatik ilerleyici lomber kifoz"]}},"xrefs":[{"source":"ICD-10","code":"M43.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015271","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537968","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0264162","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1063","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10069646","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":206638,"name":"Acquired skeletal muscle disease","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-08-25","source":"30105164[PMID]_30783552[PMID]","terms":[{"hpo":"HP:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005108","label":"Abnormal intervertebral disk morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100285","label":"EMG: impaired neuromuscular transmission","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003458","label":"EMG: myopathic abnormalities","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003445","label":"EMG: neuropathic changes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002758","label":"Osteoarthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012647","label":"Abnormal inflammatory response","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000234","label":"Abnormality of the head","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007354","label":"Amyotrophic lateral sclerosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003444","label":"EMG: chronic denervation signs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006959","label":"Proximal spinal muscular atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002134","label":"Abnormal basal ganglia morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030113","label":"Abnormal muscle fiber dysferlin","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003398","label":"Abnormal synaptic transmission at the neuromuscular junction","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002715","label":"Abnormality of the immune system","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007361","label":"Abnormality of the pons","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002511","label":"Alzheimer disease","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030197","label":"Fatigable weakness of skeletal muscles","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012548","label":"Fatty replacement of skeletal muscle","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002145","label":"Frontotemporal dementia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100315","label":"Lewy bodies","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003737","label":"Mitochondrial myopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012486","label":"Myelitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100614","label":"Myositis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002486","label":"Myotonia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003416","label":"Spinal canal stenosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003396","label":"Syringomyelia","frequency":"Very rare (<4-1%)","criteria":null}]}}