{"orpha":171442,"name":"Adult-onset nemaline myopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-171442/","orphanet_url":"https://www.orpha.net/en/disease/detail/171442","names":{"fr":{"name":"Myopathie némaline de l'adulte","definition":"La myopathie à némaline de l'adulte est une forme rapidement progressive de myopathie à némaline (MN) caractérisée par un début tardif."},"de":{"name":"Nemalin-Myopathie mit Beginn im Erwachsenenalter","definition":"Die Nemalin-Myopathie mit Beginn im Erwachsenenalter ist eine schnell progrediente Form der Nemalin-Myopathie (NM; s. dort) und durch einen sehr späten Beginn gekennzeichnet."},"es":{"name":"Miopatía nemalínica de inicio en el adulto","definition":"Es un tipo de miopatía nemalínica (MN) rápidamente progresiva, caracterizado por un debut muy tardío."},"it":{"name":"Miopatia nemalinica a esordio nell'età adulta","definition":"La miopatia nemalinica ad esordio nell'età adulta è una miopatia a progressione rapida (NM; si veda questo termine) caratterizzata da un esordio molto tardivo."},"nl":{"name":"Nemaline myopathie met aanvang op volwassen leeftijd","definition":"Een snel progressief type van nemalinemyopathie (NM), gekarakteriseerd door een zeer late aanvang."},"pt":{"name":"Miopatia nemalínica de início no adulto"},"pl":{"name":"Miopatia nemalinowa o początku w wieku dorosłym"},"cs":{"name":"Nemalinová myopatie s nástupem v dospělosti"},"uk":{"name":"Немалінова міопатія у дорослих","definition":"A rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset."},"zh":{"name":"成人起病杆状体肌病","definition":"成人起病杆状体肌病是一种以起病年龄较大为特征的进展迅速的杆状体肌病（NM）。"},"tr":{"name":"Yetişkin başlangıçlı nemalin miyopatisi"}},"xrefs":[{"source":"ICD-10","code":"G71.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C72.00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1610331066"},{"source":"MONDO","code":"0015739","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0546123","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12824","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":607,"name":"Nemaline myopathy","classifications":[156,181]},{"orpha":209059,"name":"Qualitative or quantitative defects of alpha-actin","classifications":[156]},{"orpha":209182,"name":"Qualitative or quantitative defects of nebulin","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-10-01","source":"22431881[PMID]_25205138[PMID]_8552868[PMID]_6855830[PMID]_10417802[PMID]_16148261[PMID]","terms":[{"hpo":"HP:0003458","label":"EMG: myopathic abnormalities","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003798","label":"Nemaline bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002067","label":"Bradykinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009058","label":"Increased muscle lipid content","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003557","label":"Increased variability in muscle fiber diameter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003722","label":"Neck flexor weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031047","label":"Paraproteinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003803","label":"Type 1 muscle fiber predominance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003484","label":"Upper limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002483","label":"Bulbar signs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001644","label":"Dilated cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010546","label":"Muscle fibrillation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003552","label":"Muscle stiffness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000275","label":"Narrow face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002068","label":"Neuromuscular dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002792","label":"Reduced vital capacity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002747","label":"Respiratory insufficiency due to muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008180","label":"Mildly elevated creatine kinase","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007010","label":"Poor fine motor coordination","frequency":"Excluded (0%)","criteria":null}]}}