{"orpha":178400,"name":"Distal myopathy with anterior tibial onset","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Distal anterior compartment myopathy"],"definition":"A rare, genetic neuromuscular disease characterized by a progressive muscle weakness starting in the anterior tibial muscles, later involving lower and upper limb muscles, associated with an increased serum creatine kinase levels and absence of dysferlin on muscle biopsy. Patients become wheelchair dependent.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-178400/","orphanet_url":"https://www.orpha.net/en/disease/detail/178400","names":{"fr":{"name":"Myopathie distale du muscle tibial antérieur","synonyms":["Myopathie du compartiment distal antérieur"],"definition":"Maladie neuromusculaire génétique rare caractérisée par une faiblesse musculaire progressive affectant en premier lieu le muscle tibial antérieur puis les muscles des membres inférieurs et supérieurs, associée à des taux élevés de créatine kinase sérique en l'absence de dysferline détectée par biopsie musculaire. Les patients finissent par devenir dépendants du fauteuil roulant."},"de":{"name":"Distale Myopathie mit Beginn am vorderen Schienbein","synonyms":["Distale Myopathie des vorderen Kompartiments"]},"es":{"name":"Miopatía distal de inicio en el músculo tibial anterior","synonyms":["Miopatía de compartimento distal anterior"],"definition":"La miopatía distal de inicio en el músculo tibial anterior es una enfermedad neuromuscular genética poco frecuente, caracterizada por debilidad muscular progresiva que comienza en los músculos tibiales anteriores y que, posteriormente, afecta a los músculos de las extremidades superiores e inferiores. Está asociado con un aumento de los niveles séricos de creatinquinasa y ausencia de disferlina en la biopsia muscular. Los afectados quedan confinados a una silla de ruedas."},"it":{"name":"Miopatia distale ad esordio nella porzione anteriore della tibia","definition":"La miopatia distale ad esordio nella porzione anteriore della tibia è una malattia neuromuscolare genetica rara, caratterizzata da debolezza muscolare progressiva che esordisce nei muscoli della porzione anteriore della tibia, con successivo interessamento dei muscoli degli arti inferiori e superiori, associata ad un aumento dei livelli di creatin-chinasi nel siero. La biopsia evidenzia l'assenza di disferlina. I pazienti sono costretti sulla sedia a rotelle."},"nl":{"name":"Distale myopathie met anterieure tibiale aanvang","synonyms":["Distale anterieure compartimentmyopathie"],"definition":"Distale myopathie met anterieure tibiale aanvang is een zeldzame, genetische neuromusculaire ziekte, en wordt gekarakteriseerd door een progressieve spierzwakte, die aanvangt in de voorste spieren van het scheenbeen en later spieren van onderste en bovenste ledematen treft, geassocieerd met een verhoogd gehalte van creatinekinase in het serum en afwezigheid van dysferline in spierbiopten. Patiënten worden rolstoelgebonden."},"pt":{"name":"Miopatia distal com início tibial anterior"},"pl":{"name":"Miopatia dystalna o początku w mięśniu piszczelowym przednim","synonyms":["Distal anterior compartment myopathy"]},"cs":{"name":"Distální myopatie anteriorního kompartmentu","synonyms":["Distální myopatie s anteriorním tibiálním začátkem"]},"uk":{"name":"Дистальна міопатія з початком на передній частині гомілки","synonyms":["Дистальна міопатія переднього відділу ока"],"definition":"A rare, genetic neuromuscular disease characterized by a progressive muscle weakness starting in the anterior tibial muscles, later involving lower and upper limb muscles, associated with an increased serum creatine kinase levels and absence of dysferlin on muscle biopsy. Patients become wheelchair dependent."},"zh":{"name":"前胫骨发病远端肌病","synonyms":["远端前群肌病"],"definition":"前胫骨发病远端肌病是一种罕见的遗传性神经肌肉疾病，其主要临床表现为进行性胫骨前肌肌无力，然后累及下肢和上肢肌肉，与血清肌酸激酶水平升高及肌肉活检缺乏dysferlin蛋白有关。患者逐渐依赖轮椅。"},"tr":{"name":"Anterior tibial başlangıçlı distal miyopati","synonyms":["Distal anterior kompartman miyopatisi"]}},"xrefs":[{"source":"OMIM","code":"606768","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C75","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"651559966"},{"source":"MONDO","code":"0011721","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564664","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1847532","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]},{"orpha":207073,"name":"Qualitative or quantitative defects of dysferlin","classifications":[156]}],"children":[],"genes":[{"symbol":"DYSF","name":"dysferlin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19493611[PMID]","hgnc":"3097","ensembl":"ENSG00000135636","omim":"603009","loci":["2p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"11198284[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_11198284[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-01-14","source":"11198284[PMID]_9731526[PMID]","terms":[{"hpo":"HP:0040081","label":"Abnormal circulating creatine kinase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030114","label":"Absent muscle fiber dysferlin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003738","label":"Exercise-induced myalgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009073","label":"Progressive proximal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008963","label":"Tibialis muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003438","label":"Absent Achilles reflex","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008954","label":"Intrinsic hand muscle atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003325","label":"Limb-girdle muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009005","label":"Weakness of the intrinsic hand muscles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031177","label":"Finger flexor weakness","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000467","label":"Neck muscle weakness","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0003805","label":"Rimmed vacuoles","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0003474","label":"Somatic sensory dysfunction","frequency":"Excluded (0%)","criteria":null}]}}