{"orpha":171439,"name":"Childhood-onset nemaline myopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Mild nemaline myopathy"],"definition":"Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NMs) characterized by distal muscle weakness, and sometimes slowness of muscle contraction.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-171439/","orphanet_url":"https://www.orpha.net/en/disease/detail/171439","names":{"fr":{"name":"Myopathie némaline de l'enfant","synonyms":["Myopathie némaline modérée"],"definition":"La myopathie némaline modérée, ou myopathie némaline de l'enfant, est une forme de myopathie némaline (MN) caractérisée par une faiblesse musculaire distale et parfois un ralentissement de la contraction musculaire."},"de":{"name":"Nemalin-Myopathie, milde","synonyms":["Nemalin-Myopathie, im Kindesalter beginnende"],"definition":"Die Nemalin-Myopathie mit Beginn im Kindesalter oder milde Nemalin-Myopathie, eine Form der Nemalin-Myopathie (NM; s. dort), ist gekennzeichnet durch distale Muskelschwäche und manchmal durch verlangsamte Muskelkontraktion."},"es":{"name":"Miopatía nemalínica de inicio en la infancia","synonyms":["Miopatía nemalínica leve"],"definition":"La miopatía nemalínica de aparición en la infancia o miopatía nemalínica leve es un tipo de miopatía nemalínica (NM; consulte este término) caracterizada por debilidad muscular distal, y a veces lentitud en la contracción muscular."},"it":{"name":"Miopatia nemalinica a esordio infantile","synonyms":["Miopatia nemalinica lieve"],"definition":"La miopatia nemalinica ad esordio infantile o miopatia nemalinica lieve è una forma della miopatia nemalinica (NM; si vedano questi termini) caratterizzata da debolezza muscolare distale e, a volte, lentezza nelle contrazioni muscolari."},"nl":{"name":"Nemaline myopathie met aanvang in de kindertijd","synonyms":["Milde nemaline myopathie"],"definition":"Nemalinemyopathie met aanvang in de kindertijd of milde nemalinemyopathie is een type nemalinemyopathie (NM, zie deze term) gekenmerkt door distale spierzwakte en soms trage spiercontractie."},"pt":{"name":"Miopatia nemalínica de início na infância","synonyms":["Miopatia nemalínica ligeira"]},"pl":{"name":"Dziecięca miopatia nemalinowa","synonyms":["Łagodna miopatia nemalinowa"]},"cs":{"name":"Nemalinová myopatie s nástupem v dětském věku","synonyms":["Lehká nemalinová myopatie"]},"uk":{"name":"Немалінова міопатія, що починається в дитинстві","synonyms":["Легка немалінова міопатія"],"definition":"Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction."},"zh":{"name":"儿童起病杆状体肌病","synonyms":["轻度杆状体肌病"],"definition":"儿童起病杆状体肌病，又叫轻度杆状体肌病，是一种以远端肌无力为特征的杆状体肌病（NM；见该术语），有时临床表现为肌肉收缩缓慢。"},"tr":{"name":"Çocuklukta başlayan nemalin miyopatisi","synonyms":["Hafif nemalin miyopati"]}},"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":"609273","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"609284","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"609285","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615731","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617336","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":"1984793391"},{"source":"MONDO","code":"0015738","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0546125","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7171","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]},{"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":"MYPN","name":"myopalladin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"28017374[PMID]","hgnc":"23246","ensembl":"ENSG00000138347","omim":"608517","loci":["10q21.3"]},{"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":"KBTBD13","name":"kelch repeat and BTB domain containing 13","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301465[PMID]_21104864[PMID]","hgnc":"37227","ensembl":"ENSG00000234438","omim":"613727","loci":["15q22.31"]},{"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":"23378224[PMID]_23413262[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":"7704029[PMID]","hgnc":"12012","ensembl":"ENSG00000143549","omim":"191030","loci":["1q21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"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]_24268659[PMID]_17846275[PMID]_11731279[PMID]_21104864[PMID]_11333380[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:0002312","label":"Clumsiness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003546","label":"Exercise intolerance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009055","label":"Generalized limb muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","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:0003690","label":"Limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003552","label":"Muscle stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002068","label":"Neuromuscular dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003306","label":"Spinal rigidity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003803","label":"Type 1 muscle fiber predominance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001623","label":"Breech presentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002483","label":"Bulbar signs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001349","label":"Facial diplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030192","label":"Fatigable weakness of bulbar muscles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001989","label":"Fetal akinesia sequence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","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:0000774","label":"Narrow chest","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000275","label":"Narrow face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000467","label":"Neck muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","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:0003691","label":"Scapular winging","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001533","label":"Slender build","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002515","label":"Waddling gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002804","label":"Arthrogryposis multiplex congenita","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007010","label":"Poor fine motor coordination","frequency":"Excluded (0%)","criteria":null}]}}