{"orpha":63273,"name":"FLNC-related handgrip and calf weakness-distal myopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Distal ABD-filaminopathy"],"definition":"Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-63273/","orphanet_url":"https://www.orpha.net/en/disease/detail/63273","names":{"fr":{"name":"Myopathie distale avec faiblesse de la poignée et du mollet associée à FLNC","synonyms":["Filaminopathie ABD distale"],"definition":"La myopathie distale avec atteinte des muscles postérieurs des jambes et des muscles antérieurs des mains, aussi appelée filaminopathie ABD distale, est une maladie neuromusculaire caractérisée par une faiblesse symétrique progressive des muscles antérieurs des membres supérieurs et postérieurs des membres inférieurs."},"de":{"name":"Distale Myopathie mit Beteiligung der posterioren Bein- und anterioren Handmuskulatur","synonyms":["Distale ABD-Filaminopathie","Distale Myopathie Typ 4","FLNC-assoziierte Myopathie mit Hand- und Wadenschwäche"],"definition":"Die distale Myopathie mit Beteiligung der posterioren Bein-und anterioren Handmuskulatur, auch distale ABD-Filaminopathie genannt, ist eine neuromuskuläre Krankheit mit progredienter symmetrischer Schwäche der anterioren Muskulatur der oberen und posterioren Muskulatur der unteren Gliedmassen."},"es":{"name":"Miopatía distal con debilidad de agarre y en la pantorrilla asociada a FLNC","synonyms":["Filaminopatía ABD distal"],"definition":"La miopatía distal con afectación de los músculos posteriores de la pierna y los anteriores de la mano, también llamada filaminopatía ABD distal, es una enfermedad neuromuscular caracterizada por una debilidad muscular simétrica progresiva de la parte anterior de las extremidades superiores y la parte posterior de las extremidades inferiores."},"it":{"name":"Debolezza della presa della mano e del polpaccio-miopatia distale correlata a FLNC","synonyms":["ABD-filaminopatia distale"],"definition":"La miopatia distale con coinvolgimento della parte posteriore della gamba e la parte anteriore della mano, nota anche come ABD-filaminopatia distale, è una malattia neuromuscolare caratterizzata da debolezza muscolare progressiva simmetrica che interessa anteriormente gli arti superiori e posteriormente quelli inferiori."},"nl":{"name":"FLNC-gerelateerde myopathie met zwakte van handgreep en kuit","synonyms":["Distale ABD-filaminopathie"],"definition":"Distale myopathie aan de posterieure zijde van de benen en de anterieure zijde van de handen, ook wel ABD-filaminopathie genoemd, is een neuromusculaire aandoening gekenmerkt door een progressieve symmetrische spierzwakte van de anterieure zijde van de bovenste en de posterieure zijde van de onderste ledematen."},"pt":{"name":"Miopatia distal com fraqueza de preensão manual e dos músculos da barria da perna FLNC-relacionada","definition":"A Miopatia distal com envolvimento da perna posterior e mão anterior, também chamado filaminopatia ABD distal é uma doença neuromuscular caracterizada por fraqueza muscular simétrica progressiva dos membros inferiores posteriormente e superiores anteriormente."},"pl":{"name":"Związane z FLNC osłabienie dłoni i podudzi – miopatia dystalna","synonyms":["Distal ABD-filaminopathy"]},"cs":{"name":"Distální myopatie s postižením zadní skupiny svalů nohy a přední skupiny svalů ruky","synonyms":["Distální ABD-filaminopatie"]},"uk":{"name":"Дистальна міопатія із залученням задньої частини ноги та передньої частини руки","synonyms":["Дистальна ABD-філамінопатія"],"definition":"Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs."},"zh":{"name":"远端肌病伴后腿及前手受累","synonyms":["远端ABD一细丝蛋白病"]},"tr":{"name":"Arka bacak ve anterior el tutulumu ile seyreden distal miyopati","synonyms":["Distal ABD-filaminopati"]}},"xrefs":[{"source":"OMIM","code":"614065","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":"289744228"},{"source":"MONDO","code":"0013550","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518807","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":206650,"name":"Autosomal dominant distal myopathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"FLNC","name":"filamin C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21620354[PMID]","hgnc":"3756","ensembl":"ENSG00000128591","omim":"102565","loci":["7q32.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":16.0,"area":"Worldwide","status":"Validated","source":"15824355[PMID]_21620354[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_15824355[PMID]_21620354[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-01-11","source":"15824355[PMID]_21620354[PMID]","terms":[{"hpo":"HP:0003738","label":"Exercise-induced myalgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002600","label":"Hyporeflexia of lower limbs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008954","label":"Intrinsic hand muscle atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009046","label":"Difficulty running","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009053","label":"Distal lower limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031177","label":"Finger flexor weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009027","label":"Foot dorsiflexor weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002141","label":"Gait imbalance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012515","label":"Hip flexor weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006389","label":"Limited knee flexion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001626","label":"Abnormality of the cardiovascular system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006135","label":"Decreased finger mobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008959","label":"Distal upper limb muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030200","label":"Fatiguable weakness of proximal limb muscles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008994","label":"Proximal muscle weakness in lower limbs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030319","label":"Weakness of facial musculature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0002747","label":"Respiratory insufficiency due to muscle weakness","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0003474","label":"Somatic sensory dysfunction","frequency":"Excluded (0%)","criteria":null}]}}