{"orpha":536516,"name":"Myopathic Ehlers-Danlos syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["EDS/myopathy overlap syndrome","Myopathic EDS"],"definition":"A rare systemic disease characterized by congenital muscle hypotonia and/or muscle atrophy that improves with age, proximal joint contractures (knee, hip, elbow), and hypermobility of distal joints. Additional features include soft, doughy skin, atrophic scarring, delayed motor development, and myopathic findings in muscle biopsy. Abnormal craniofacial features have been reported in some patients. Molecular testing is obligatory to confirm the diagnosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-536516/","orphanet_url":"https://www.orpha.net/en/disease/detail/536516","names":{"fr":{"name":"Syndrome d'Ehlers-Danlos myopathique","synonyms":["Syndrome de superposition SED/myopathie","SED myopathique"],"definition":"Maladie systémique rare caractérisée par une hypotonie musculaire congénitale et/ou une atrophie musculaire qui s'améliore avec l'âge, des contractures articulaires proximales (genou, hanche, coude) et une hypermobilité des articulations distales. Parmi les autres caractéristiques figurent une peau douce et d'aspect « pâteux », des cicatrices atrophiques, le retard de développement moteur et les signes de myopathie identifiés lors d'une biopsie musculaire. Des caractéristiques cranio-faciales anormales ont été signalées chez certains patients. Des tests moléculaires sont nécessaires pour confirmer le diagnostic."},"de":{"name":"Ehlers-Danlos-Syndrom, myopathischer Typ","synonyms":["EDS, myopathisches","EDS/Myopathie-Overlap-Syndrom"],"definition":"Eine seltene Systemerkrankung, die durch angeborene Muskelhypotonie und/oder Muskelatrophie, die sich mit zunehmendem Alter bessert, proximale Gelenkkontrakturen (Knie, Hüfte, Ellenbogen) und Hypermobilität der distalen Gelenke gekennzeichnet ist. Weitere Merkmale sind weiche, teigige Haut, atrophische Narbenbildung, verzögerte motorische Entwicklung und myopathische Befunde in der Muskelbiopsie. Bei einigen Patienten wurden abnorme kraniofaziale Merkmale festgestellt. Molekulargenetische Untersuchungen sichern die Diagnose."},"es":{"name":"Síndrome de Ehlers-Danlos miopático","synonyms":["SED miopático","Síndrome de solapamiento de SED/miopatía"],"definition":"Es una enfermedad sistémica poco frecuente caracterizada por hipotonía muscular congénita y/o atrofia muscular que mejora con la edad, contracturas articulares proximales (rodilla, cadera y codo) e hipermovilidad de las articulaciones distales. Otros hallazgos adicionales incluyen piel suave y aterciopelada con cicatrización atrófica, retraso del desarrollo motor y hallazgos miopáticos en la biopsia muscular. En algunos pacientes se han descrito rasgos craneofaciales anómalos. Las pruebas moleculares son necesarias para la confirmación diagnóstica."},"it":{"name":"Sindrome di Ehlers-Danlos miopatica","definition":"Si tratta di una malattia sistemica rara, caratterizzata da ipotonia muscolare congenita e/o atrofia muscolare che migliora con l'età, contratture delle articolazioni prossimali (ginocchio, anca, gomito) e ipermobilità delle articolazioni distali. Altri segni clinici sono la cute soffice e flaccida, le cicatrici atrofiche e il ritardo dello sviluppo motorio. La biopsia dei muscoli evidenzia la miopatia. Alcuni pazienti presentano dismorfismi craniofacciali. Le analisi molecolari confermano la diagnosi."},"nl":{"name":"Myopathisch syndroom van Ehlers-Danlos","synonyms":["EDS/myopathie-overlapsyndroom","Myopathisch EDS","mEDS"],"definition":"Een zeldzame systemische ziekte, gekarakteriseerd door congenitale spierhypotonie en/of spieratrofie die verbetert met het ouder worden, proximale gewrichtscontracturen (knie, heup, elleboog), en hypermobiliteit van distale gewrichten. Bijkomende kenmerken zijn onder meer zachte en deegachtige huid, atrofische littekenvorming, vertraagde motorische ontwikkeling, en myopathische bevindingen in spierbiopten. Bij sommige patiënten werden abnormale craniofaciale kenmerken gerapporteerd. Moleculair testen is vereist om de diagnose te bevestigen."},"pt":{"name":"Síndrome Ehlers-Danlos miopático"},"pl":{"name":"Zespół Ehlersa i Danlosa miopatyczny","synonyms":["EDS/myopathy overlap syndrome","Myopathic EDS"]},"cs":{"name":"Myopatický Ehlers-Danlosův syndrom","synonyms":["EDS/myopathy overlap syndrome","Myopathic EDS"]},"uk":{"name":"Міопатичний синдром Елерса-Данлоса","synonyms":["Синдром накладання EDS/міопатії","Міопатичний EDS"],"definition":"A rare systemic disease characterized by congenital muscle hypotonia and/or muscle atrophy that improves with age, proximal joint contractures (knee, hip, elbow), and hypermobility of distal joints. Additional features include soft, doughy skin, atrophic scarring, delayed motor development, and myopathic findings in muscle biopsy. Abnormal craniofacial features have been reported in some patients. Molecular testing is obligatory to confirm the diagnosis."},"zh":{"name":"肌病性埃勒斯-当洛斯综合征","synonyms":["埃勒斯-当洛斯/肌病重叠综合征"],"definition":"一种罕见的系统性疾病，其特征是先天性肌张力低下和（或）肌肉萎缩，随着年龄的增长而改善，近端关节挛缩（膝、髋、肘），远端关节过度活动。其他特征包括皮肤柔软似生面团、萎缩性瘢痕、运动发育迟缓和肌肉活检中发现肌病性表现。有报道称，部分患者有异常的颅面特征。为了确诊，必须进行分子检测。"},"tr":{"name":"Miyopatik Ehlers-Danlos sendromu","synonyms":["Miyopatik EDS","EDS/miyopati örtüşen sendrom"]}},"xrefs":[{"source":"OMIM","code":"616471","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q79.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD28.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0034022","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680153","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":97242,"name":"Congenital muscular dystrophy","classifications":[156,181]},{"orpha":98249,"name":"Ehlers-Danlos syndrome","classifications":[147,156,187,196]}],"children":[],"genes":[{"symbol":"COL12A1","name":"collagen type XII alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28306229[PMID]_28306225[PMID]","hgnc":"2188","ensembl":"ENSG00000111799","omim":"120320","loci":["6q13-q14.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"28306225[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28306225[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-11-15","source":"31273343[PMID]_25821091[PMID]","terms":[{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001075","label":"Atrophic scars","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0025335","label":"Delayed ability to stand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031936","label":"Delayed ability to walk","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0020152","label":"Distal joint hypermobility","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003324","label":"Generalized muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003557","label":"Increased variability in muscle fiber diameter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001181","label":"Adducted thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006466","label":"Ankle flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000592","label":"Blue sclerae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008780","label":"Congenital bilateral hip dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002803","label":"Congenital contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005879","label":"Congenital finger flexion contractures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005988","label":"Congenital muscular torticollis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003199","label":"Decreased muscle mass","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010862","label":"Delayed fine motor development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002987","label":"Elbow flexion contracture","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003546","label":"Exercise intolerance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008366","label":"Foot joint contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000974","label":"Hyperextensible skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0009473","label":"Joint contracture of the hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032152","label":"Keratosis pilaris","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006380","label":"Knee flexion contracture","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001601","label":"Laryngomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008180","label":"Mildly elevated creatine kinase","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002828","label":"Multiple joint contractures","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000980","label":"Pallor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010499","label":"Patellar subluxation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001058","label":"Poor wound healing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003701","label":"Proximal muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003044","label":"Shoulder flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000977","label":"Soft skin","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030051","label":"Tip-toe gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030319","label":"Weakness of facial musculature","frequency":"Occasional (29-5%)","criteria":null}]}}