{"orpha":171881,"name":"Cap myopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Cap disease"],"definition":"Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-171881/","orphanet_url":"https://www.orpha.net/en/disease/detail/171881","names":{"fr":{"name":"Myopathie à casquette","synonyms":["Myopathie à cap"],"definition":"La myopathie à casquette est une myopathie congénitale très rare se manifestant par une faiblesse des muscles faciaux et respiratoires, associée à des déformations craniofaciales et thoraciques, ainsi qu'une faiblesse des muscles proximaux et distaux des membres. La maladie apparaît à la naissance ou au cours de l'enfance. La progression de la faiblesse musculaire est lente, mais elle peut conduire à un pronostic sévère, voire fatal."},"de":{"name":"Cap-Myopathie","definition":"Die Cap-Myopathie ist eine sehr seltene kongenitale Myopathie mit Schwäche der proximalen und distalen Muskulatur, sowie der Gesichts- und Atemmuskeln. Gleichzeitig bestehen Schädel- und Thoraxdeformitäten. Der Beginn ist bei Geburt oder im Kindesalter. Die Muskelschwäche schreitet nur langsam fort, kann aber eine schwere und sogar fatale Prognose haben."},"es":{"name":"Miopatía con capuchón","synonyms":["Enfemedad con capuchón"],"definition":"La miopatía con capuchón es un miopatía congénita muy rara que presenta: debilidad en los músculos proximales, distales, faciales y respiratorios, asociada con deformidades craneofaciales y torácicas. Su aparición se da al nacimiento o en la infancia; la progresión de la debilidad es lenta pero puede conducir a un pronóstico grave e incluso letal."},"it":{"name":"Miopatia a cappello","definition":"La miopatia a \"cappello\" è una miopatia congenita molto rara che si manifesta con debolezza dei muscoli facciali e respiratori distali e prossimali, associata a deformità del torace e craniofacciali. La malattia esordisce alla nascita o nell'infanzia; la progressione della debolezza è lenta, ma può comportare una prognosi grave e addirittura la morte."},"nl":{"name":"Cap-myopathie","synonyms":["Cap-ziekte"],"definition":"Een zeer zeldzame congenitale myopathie, gekenmerkt door zwakte van aangezichtsspieren en ademhalingsspieren, geassocieerd met craniofaciale en thoracale deformiteiten, alsook spierzwakte van proximale en distale ledematen. De ziekte vangt aan bij de geboorte of in de kindertijd, en progressie van spierzwakte verloopt traag maar kan leiden tot ernstige en zelfs fatale prognose."},"pt":{"name":"Miopatia de Cap"},"pl":{"name":"Miopatia czapeczek","synonyms":["Choroba czapeczek"]},"cs":{"name":"Cap myopatie","synonyms":["Cap disease","Cap onemocnění"]},"uk":{"name":"Ковпачкова міопатія","synonyms":["Хвороба шапочки"],"definition":"Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis."},"zh":{"name":"帽状肌病","synonyms":["帽状病"],"definition":"Cap肌病是一种非常罕见的先天性肌病，其主要临床表现为面肌无力和呼吸肌无力，与颅面部畸形和胸部畸形相关，还表现为肢体近端和远端肌肉无力，肌无力进展缓慢，但是预后较差甚至死亡，发病年龄多在出生时或儿童期"},"tr":{"name":"Kap miyopatisi","synonyms":["Cap hastalığı"]}},"xrefs":[{"source":"OMIM","code":"609284","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"609285","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C72.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"482118421"},{"source":"MONDO","code":"0015753","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C579969","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3710589","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"11915","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":97245,"name":"Congenital myopathy","classifications":[156,181]},{"orpha":284790,"name":"Qualitative or quantitative defects of tropomyosin","classifications":[156]}],"children":[],"genes":[{"symbol":"MYPN","name":"myopalladin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28220527[PMID]","hgnc":"23246","ensembl":"ENSG00000138347","omim":"608517","loci":["10q21.3"]},{"symbol":"TPM2","name":"tropomyosin 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301465[PMID]_17846275[PMID]","hgnc":"12011","ensembl":"ENSG00000198467","omim":"190990","loci":["9p13.3"]},{"symbol":"TPM3","name":"tropomyosin 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20554445[PMID]","hgnc":"12012","ensembl":"ENSG00000143549","omim":"191030","loci":["1q21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":21.0,"area":"Worldwide","status":"Validated","source":"25079567[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25079567[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-07-06","source":"19345583[PMID]_19553118[PMID]","terms":[{"hpo":"HP:0004303","label":"Abnormal muscle fiber morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002616","label":"Aortic root aneurysm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007110","label":"Central hypoventilation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003551","label":"Difficulty climbing stairs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009046","label":"Difficulty running","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003388","label":"Easy fatigability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010628","label":"Facial palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030200","label":"Fatiguable weakness of proximal limb muscles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002359","label":"Frequent falls","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003700","label":"Generalized amyotrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003391","label":"Gowers sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001611","label":"Hypernasal speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003557","label":"Increased variability in muscle fiber diameter","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007210","label":"Lower limb amyotrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002938","label":"Lumbar hyperlordosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001634","label":"Mitral valve prolapse","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:0008081","label":"Pes valgus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002421","label":"Poor head control","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006673","label":"Reduced systolic function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011703","label":"Sinus tachycardia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002943","label":"Thoracic scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030051","label":"Tip-toe gait","frequency":"Occasional (29-5%)","criteria":null}]}}