{"orpha":399103,"name":"Autosomal recessive distal nebulin myopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Nebulin-related early-onset distal myopathy"],"definition":"Distal nebulin myopathy is a rare, slowly progressive, autosomal recessive distal myopathy characterized by early onset of predominantly distal muscle weakness and atrophy affecting lower leg extensor muscles, finger extensors and neck flexors. Muscle histology does not always show nemaline rods.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-399103/","orphanet_url":"https://www.orpha.net/en/disease/detail/399103","names":{"fr":{"name":"Myopathie distale autosomique recessive précoce associée à la nébuline","definition":"Myopathie distale autosomique récessive rare, lentement progressive, caractérisée par l'apparition précoce d'une faiblesse et d'une atrophie musculaires principalement distales affectant les muscles extenseurs de la jambe, les extenseurs des doigts et les fléchisseurs du cou. La présence de bâtonnets de némaline n'apparaît pas toujours sur l'histologie musculaire."},"de":{"name":"Nebulin-Myopathie, distale, autosomal-rezessive","synonyms":["Nebulin-assoziierte früh-einsetzende Nemalin-Myopathie"],"definition":"Die distale Nebulin-Myopathie ist eine seltene, langsam fortschreitende, autosomal-rezessiv vererbte distale Myopathie, die durch ein frühes Auftreten von vorwiegend distaler Muskelschwäche und -atrophie gekennzeichnet ist. Sie betrifft Unterschenkelstreckmuskeln, Fingerstrecker und Nackenbeuger. Die Muskelhistologie zeigt nicht immer Nemalinkörper."},"es":{"name":"Miopatía distal asociada a nebulina autosómica recesiva","synonyms":["Miopatía distal de inicio precoz asociada a nebulina"],"definition":"La miopatía distal asociada a nebulina es una miopatía distal autosómica recesiva, lentamente progresiva y poco frecuente, caracterizada por un inicio temprano de debilidad muscular predominantemente distal y atrofia que afecta a los músculos extensores de la parte inferior de la pierna, los extensores de los dedos y los flexores del cuello. La histología muscular no siempre muestra los bastones nemalínicos."},"it":{"name":"Miopatia distale correlata alla nebulina","synonyms":["Miopatia distale a esordio precoce correlata alla nebulina"],"definition":"La miopatia distale correlata alla nebulina è una miopatia distale rara autosomica recessiva a progressione lenta e ad esordio precoce. È caratterizzata da debolezza e atrofia muscolare per lo più distali, che interessano i muscoli estensori della porzione inferiore della gamba, gli estensori delle dita delle mani e i flessori del collo. Non sempre gli esami istologici dei muscoli evidenziano la presenza di bastoncelli nemalinici."},"nl":{"name":"Autosomaal recessieve distale nebulinemyopathie","synonyms":["Nebulinegerelateerde distale myopathie met vroege aanvang"],"definition":"Distale nebuline myopathie is een zeldzame, traag progressieve, autosomaal recessieve distale myopathie, en wordt gekarakteriseerd door vroege aanvang van voornamelijk distale spierzwakte en -atrofie die strekspieren van de onderbenen, strekspieren van de vingers en buigspieren van de nek treffen. Histologie van de spieren toont niet altijd nemalinestaafjes."},"pt":{"name":"Miopatia distal com início precoce, relacionada com a proteína nebulina"},"pl":{"name":"Dystalna miopatia nebulinowa o dziedziczeniu autosomalnym recesywnym","synonyms":["Nebulin-related early-onset distal myopathy"]},"cs":{"name":"Distální nebulin vázaná myopatie s časným nástupem","synonyms":["Nebulin-related early-onset distal myopathy"]},"uk":{"name":"Дистальна небулінова міопатія","synonyms":["Небулінова дистальна міопатія, повязана з раннім початком"],"definition":"Distal nebulin myopathy is a rare, slowly progressive, autosomal recessive distal myopathy characterized by early onset of predominantly distal muscle weakness and atrophy affecting lower leg extensor muscles, finger extensors and neck flexors. Muscle histology does not always show nemaline rods."},"zh":{"name":"远端神经蛋白肌病","synonyms":["伴肌动蛋白相关早发远端肌病"],"definition":"远端伴肌动蛋白肌病是一种罕见的、进展缓慢的常染色体隐性遗传性远端肌病，其特征是早期发病，主要表现为远端肌无力和肌萎缩，影响小腿伸肌、手指伸肌和颈部屈肌。肌肉组织学检查并不总是能找到线状体。"},"tr":{"name":"Distal nebulin miyopatisi","synonyms":["Nebulin ilişkili erken başlangıçlı distal miyopati"]}},"xrefs":[{"source":"OMIM","code":"256030","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018371","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190827","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":206653,"name":"Autosomal recessive distal myopathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"NEB","name":"nebulin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17525139[PMID]","hgnc":"7720","ensembl":"ENSG00000183091","omim":"161650","loci":["2q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":13.0,"area":"Worldwide","status":"Validated","source":"29070751[PMID]_25205138[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_29070751[PMID]_25205138[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-01-14","source":"17525139[PMID]_23443021[PMID]_25205138[PMID]","terms":[{"hpo":"HP:0006466","label":"Ankle flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003458","label":"EMG: myopathic abnormalities","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009027","label":"Foot dorsiflexor weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003722","label":"Neck flexor weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003798","label":"Nemaline bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009063","label":"Progressive distal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012036","label":"Sternocleidomastoid amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009077","label":"Weakness of long finger extensor muscles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009005","label":"Weakness of the intrinsic hand muscles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002875","label":"Exertional dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012548","label":"Fatty replacement of skeletal muscle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009073","label":"Progressive proximal muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001533","label":"Slender build","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030319","label":"Weakness of facial musculature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Very rare (<4-1%)","criteria":null}]}}