{"orpha":171430,"name":"Severe congenital nemaline myopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM) characterized by severe hypotonia with little spontaneous movement in neonates.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-171430/","orphanet_url":"https://www.orpha.net/en/disease/detail/171430","names":{"fr":{"name":"Myopathie congénitale sévère à némaline","definition":"La myopathie congénitale sévère à némaline est une forme sévère de myopathie à némaline (MN), caractérisée par une hypotonie néonatale majeure avec une réduction des mouvements spontanés du nouveau-né."},"de":{"name":"Nemalin-Myopathie, kongenitale schwere","definition":"Die schwere kongenitale Nemalin-Myopathie, eine schwere Form der Nemalin-Myopathie (NM; siehe dort), ist bei Neugeborenen gekennzeichnet durch schwere Muskelhypotonie und einen Mangel an Spontanbewegungen."},"es":{"name":"Miopatía nemalínica congénita grave","definition":"La miopatía nemalínica congénita grave es una forma grave de miopatía nemalínica (NM) caracterizada por una hipotonía grave con pequeños movimientos espontáneos en neonatos."},"it":{"name":"Miopatia nemalinica congenita grave","definition":"La miopatia nemalinica congenita grave è una forma severa della miopatia nemalinica (NM; si veda questo termine), caratterizzata da marcata ipotonia, con scarsi movimenti spontanei nei neonati."},"nl":{"name":"Ernstige congenitale nemaline myopathie","synonyms":["Ernstige aangeboren nemaline myopathie"],"definition":"Ernstige aangeboren nemalinemyopathie is een ernstige vorm van nemalinemyopathie (NM; zie deze term) gekenmerkt door ernstige hypotonie met weinig spontane beweging bij pasgeborenen."},"pt":{"name":"Miopatia nemalínica congénita grave"},"pl":{"name":"Ciężka wrodzona miopatia nemalinowa"},"cs":{"name":"Těžká vrozená nemalinová myopatie"},"uk":{"name":"Важка вроджена немалінова міопатія","definition":"Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates."},"zh":{"name":"严重先天性杆状体肌病","definition":"重度先天性杆状体肌病是一种严重的杆状体肌病（NM；见该术语），其主要临床表现为新生儿重度肌张力低下，几乎没有自发运动。"},"tr":{"name":"Ağır doğumsal nemalin miyopatisi"}},"xrefs":[{"source":"OMIM","code":"161800","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"256030","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615348","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615731","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616165","qualifier":"BTNT","icd_relation":null,"validated":true},{"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":"1025202057"},{"source":"MONDO","code":"0015735","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680451","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12821","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":457074,"name":"Congenital nemaline myopathy","classifications":[156,181]},{"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":[{"symbol":"KLHL40","name":"kelch like family member 40","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23746549[PMID]","hgnc":"30372","ensembl":"ENSG00000157119","omim":"615340","loci":["3p22.1"]},{"symbol":"KLHL41","name":"kelch like family member 41","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24268659[PMID]","hgnc":"16905","ensembl":"ENSG00000239474","omim":"607701","loci":["2q31.1"]},{"symbol":"LMOD3","name":"leiomodin 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25250574[PMID]","hgnc":"6649","ensembl":"ENSG00000163380","omim":"616112","loci":["3p14.1"]},{"symbol":"ACTA1","name":"actin alpha 1, skeletal muscle","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"129","ensembl":"ENSG00000143632","omim":"102610","loci":["1q42.13"]},{"symbol":"NEB","name":"nebulin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"7720","ensembl":"ENSG00000183091","omim":"161650","loci":["2q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"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":"2025-07-01","source":"36960434[PMID]","terms":[{"hpo":"HP:0000765","label":"Abnormal thorax morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003327","label":"Axial muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001623","label":"Breech presentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001558","label":"Decreased fetal movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010628","label":"Facial palsy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002375","label":"Hypokinesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009025","label":"Increased connective tissue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005855","label":"Multiple prenatal fractures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003798","label":"Nemaline bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006829","label":"Severe muscular hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003803","label":"Type 1 muscle fiber predominance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000775","label":"Abnormality of the diaphragm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001181","label":"Adducted thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002804","label":"Arthrogryposis multiplex congenita","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001695","label":"Cardiac arrest","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001640","label":"Cardiomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001644","label":"Dilated cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007514","label":"Edema of the dorsum of hands","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001349","label":"Facial diplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002527","label":"Falls","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000239","label":"Large fontanelles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000602","label":"Ophthalmoplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000883","label":"Thin ribs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null}]}}