{"orpha":171436,"name":"Typical nemaline myopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM) characterized by facial and skeletal muscle weakness and mild respiratory involvement.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-171436/","orphanet_url":"https://www.orpha.net/en/disease/detail/171436","names":{"fr":{"name":"Myopathie némaline typique","definition":"La myopathie à némaline typique est une forme néonatale modérée de myopathie à némaline (MN), caractérisée par une faiblesse des muscles squelettiques et faciaux et par une atteinte respiratoire discrète."},"de":{"name":"Nemalin-Myopathie, typische","definition":"Die typische Nemalin-Myopathie ist eine moderate neonatale Form der Nemalin-Myopathie (NM; s. dort) und gekennzeichnet durch Schwäche der Gesichts- und Skelettmuskulatur und leichte Beteiligung der Atemmuskulatur."},"es":{"name":"Miopatía nemalínica típica","definition":"La miopatía nemalínica típica es una forma neonatal moderada de la miopatía nemalínica (NM; consulte este término) caracterizada por una debilidad muscular facial y esquelética y problemas respiratorios leves."},"it":{"name":"Miopatia nemalinica tipica","definition":"La miopatia nemalinica tipica è una forma neonatale moderata della miopatia nemalinica (NM; si veda questo termine), caratterizzata da debolezza dei muscoli facciali e scheletrici e da un coinvolgimento respiratorio lieve."},"nl":{"name":"Typische nemaline myopathie","definition":"Typische nemalinemyopathie is een matig ernstige neonatale vorm van nemalinemyopathie (NM; zie deze term) gekenmerkt door zwakte van de aangezichts- en skeletspieren en licht verstoorde ademhaling."},"pt":{"name":"Miopatia nemalínica típica"},"pl":{"name":"Typowa miopatia nemalinowa"},"cs":{"name":"Typická nemalinová myopatie"},"uk":{"name":"Типова немалінова міопатія","definition":"Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM; see this term) characterized by facial and skeletal muscle weakness and mild respiratory involvement."},"zh":{"name":"典型杆状体肌病","definition":"经典型杆状体肌病是一种中度的新生儿杆状体肌病（NM；见该术语），其主要临床表现为面部肌无力、骨骼肌无力和轻度呼吸肌无力。"},"tr":{"name":"Tipik 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":"609285","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610687","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":"1105111633"},{"source":"MONDO","code":"0015737","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680453","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12822","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]},{"orpha":284790,"name":"Qualitative or quantitative defects of tropomyosin","classifications":[156]}],"children":[],"genes":[{"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":"CFL2","name":"cofilin 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17160903[PMID]","hgnc":"1875","ensembl":"ENSG00000165410","omim":"601443","loci":["14q13.1"]},{"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"]},{"symbol":"TPM2","name":"tropomyosin 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"12011","ensembl":"ENSG00000198467","omim":"190990","loci":["9p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-06-08","source":"6733612[PMID]_8789770[PMID]_9185179[PMID]_11333380[PMID]_23746549[PMID]_25250574[PMID]_12207937[PMID]","terms":[{"hpo":"HP:0003327","label":"Axial muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010628","label":"Facial palsy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030198","label":"Fatigable weakness of distal limb muscles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009027","label":"Foot dorsiflexor weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003557","label":"Increased variability in muscle fiber diameter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003325","label":"Limb-girdle muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003722","label":"Neck flexor weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003803","label":"Type 1 muscle fiber predominance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002804","label":"Arthrogryposis multiplex congenita","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001349","label":"Facial diplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030196","label":"Fatigable weakness of respiratory muscles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030200","label":"Fatiguable weakness of proximal limb muscles","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:0002857","label":"Genu valgum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002970","label":"Genu varum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002375","label":"Hypokinesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000275","label":"Narrow face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003798","label":"Nemaline bodies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002877","label":"Nocturnal hypoventilation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003306","label":"Spinal rigidity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002515","label":"Waddling gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Very rare (<4-1%)","criteria":null}]}}