{"orpha":171445,"name":"Muscle filaminopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["FLNC-associated myofibrillar myopathy","Filamin C-related filaminopathy","MFM5"],"definition":"Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-171445/","orphanet_url":"https://www.orpha.net/en/disease/detail/171445","names":{"fr":{"name":"Filaminopathie musculaire","synonyms":["Myopathie myofibrillaire liée à la filamine C"],"definition":"Une myopathie myofibrillaire rare caractérisée par une faiblesse lentement progressive des muscles squelettiques proximaux. Elle prédomine d'abord au niveau des extrémités inférieures, puis, avec la progression de la maladie, affecte les extrémités supérieures. Les patients présentent des difficultés pour monter des escaliers, une démarche dandinante, une scapula ailée prononcée, une douleur lombaire, une parésie musculaire des ceintures, une hypo-/aréflexie, et/ou une légère faiblesse des muscles du visage dans de rares cas. Une faiblesse musculaire respiratoire est fréquente, et des anomalies cardiaques (blocs de conduction, tachycardie, dysfonction diastolique, hypertrophie ventriculaire gauche) ont été rapportées dans certains cas."},"de":{"name":"Filaminopathie, muskuläre","synonyms":["FLNC-assoziierte myofibrilläre Myopathie","Filamin C-assoziierte Filaminopathie","MFM5"],"definition":"Die Filaminopathie ist eine seltene myofibrilläre Myopathie, die durch eine langsam fortschreitende, proximale Skelettmuskelschwäche gekennzeichnet ist, die anfänglich eher in den unteren Extremitäten auftritt und mit Fortschreiten der Erkrankung auch die oberen Extremitäten mit einbezieht. Die Patienten zeigen Schwierigkeiten beim Treppensteigen, einen watschelnden Gang, eine ausgeprägte Scapula alata, Schmerzen im unteren Rücken, Paresen der Gliedergürtelmuskulatur, Hypo-/Areflexie und/oder in seltenen Fällen eine leichte Schwäche der Fazialmuskeln. Eine Schwäche der Atemmuskulatur ist häufig und in einigen Fällen wurde über kardiale Anomalien (Leitungsblockaden, Tachykardie, diastolische Dysfunktion, linksventrikuläre Hypertrophie) berichtet."},"es":{"name":"Filaminopatía muscular","synonyms":["Filaminopatía asociada a la filamina C","MFM5","Miopatía miofibrilar asociada a FLNC"],"definition":"La filaminopatía muscular es una miopatía miofibrilar poco frecuente, caracterizada por debilidad muscular proximal lentamente progresiva, que inicialmente es más destacada en las extremidades inferiores, afectando a las extremidades superiores con la progresión de la enfermedad. Los afectados presentan dificultad para subir escaleras, marcha anserina, escápula alada marcada, dolor dorsolumbar, paresia de la musculatura de la cintura escapular, hipo/arreflexia y/o debilidad muscular facial leve en casos aislados. Es común la debilidad de los músculos respiratorios y, en algunos casos, se han notificado anomalías cardíacas (bloqueos de conducción, taquicardia, disfunción diastólica, hipertrofia ventricular izquierda)."},"it":{"name":"Miopatia miofibrillare correlata a FLNC","definition":"La filaminopatia muscolare è una miopatia miofibrillare rara, caratterizzata da debolezza dei muscoli scheletrici prossimali a progressione lenta, inizialmente più marcata negli arti inferiori, che, con il progredire della malattia, colpisce anche gli arti superiori. I pazienti presentano difficoltà nel salire le scale, andatura a base allargata, scapole marcatamente alate, dolore nella parte inferiore della schiena, paresi della muscolatura dei cingoli, ipo/areflessia e/o raramente lieve debolezza dei muscoli facciali. La debolezza dei muscoli respiratori è comune, mentre solo alcuni pazienti presentano cardiopatie (blocchi della conduzione, tachicardia, disfunzione diastolica, ipertrofia del ventricolo sinistro)."},"nl":{"name":"Spierfilaminopathie","synonyms":["FLNC-geassocieerde myofibrillaire myopathie","Filamine C-gerelateerde filaminopathie","MFM5"],"definition":"Spierfilaminopathie is een zeldzame myofibrillaire myopathie en wordt gekarakteriseerd door traag progressieve zwakte van proximale skeletspieren die initieel meer uitgesproken is in de onderste ledematen en die naarmate de ziekte evolueert ook de bovenste ledematen treft. Patiënten vertonen moeilijkheden bij het beklimmen van trappen, een waggelende gang, duidelijk afstaande schouderbladen, pijn in de onderrug, parese van de musculatuur van ledemaatgordels, hypo-/areflexie en/of milde zwakte van gelaatsspieren in zeldzame gevallen. Zwakte van ademhalingsspieren komt vaak voor en hartanomalieën (geleidingsblok, tachycardie, diastolische disfunctie, hypertrofie van het linker ventrikel) werden gerapporteerd in sommige gevallen."},"pt":{"name":"Filaminopatia muscular","synonyms":["Filaminopatia filamina c-relacionada","MFM5","Miopatia miofibrilar FLNC-relacionada"]},"pl":{"name":"Filamentopatia mięśniowa","synonyms":["Filaminopatia mięśniowa"]},"cs":{"name":"Svalová filaminopatie","synonyms":["FLNC-associated myofibrillar myopathy","Filamin C-related filaminopathy","MFM5"]},"uk":{"name":"Мязова філамінопатія","synonyms":["Філамінопатія, повязана з філаміном С","FLNC-асоційована міофібрилярна міопатія","MFM5"],"definition":"Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases."},"zh":{"name":"肌纤维性肌病","definition":"肌肉细丝蛋白病是一种罕见的肌原纤维肌病，其主要临床表现为缓慢进行性近端骨骼肌无力，下肢起病，随着疾病的进展逐渐累及上肢。患者表现为走楼梯困难、步态蹒跚、方肩、腰痛、肢带肌轻度瘫痪、反射减退或消失，在少数罕见病例可能出现轻度面部肌无力。大多数患者会出现呼吸性肌无力，部分患者出现心脏疾病（传导阻滞，心动过速，舒张功能不全，左心室肥大）。"},"tr":{"name":"Kas filaminopatisi"}},"xrefs":[{"source":"OMIM","code":"609524","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C76","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1084199137"},{"source":"MONDO","code":"0012289","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707258","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":593,"name":"Myofibrillar myopathy","classifications":[156,181]},{"orpha":209047,"name":"Qualitative or quantitative defects of filamin C","classifications":[156]}],"children":[],"genes":[{"symbol":"FLNC","name":"filamin C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15929027[PMID]","hgnc":"3756","ensembl":"ENSG00000128591","omim":"102565","loci":["7q32.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-01-19","source":"32022900[PMID]_15929027[PMID]_19050726[PMID]_30496909[PMID]_34235269[PMID]_18055494[PMID]_32516863[PMID]_33041974[PMID]_32516863[PMID]","terms":[{"hpo":"HP:0003458","label":"EMG: myopathic abnormalities","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008180","label":"Mildly elevated creatine kinase","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008994","label":"Proximal muscle weakness in lower limbs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003418","label":"Back pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003551","label":"Difficulty climbing stairs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003555","label":"Muscle fiber splitting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030177","label":"Abnormality of peripheral nervous system electrophysiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012548","label":"Fatty replacement of skeletal muscle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0034392","label":"Joint contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025168","label":"Left ventricular diastolic dysfunction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001712","label":"Left ventricular hypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011712","label":"Right bundle branch block","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003691","label":"Scapular winging","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030319","label":"Weakness of facial musculature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0410011","label":"Abnormality of masticatory muscle","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030235","label":"Extremely elevated creatine kinase","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003722","label":"Neck flexor weakness","frequency":"Very rare (<4-1%)","criteria":null}]}}