{"orpha":269,"name":"Facioscapulohumeral dystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["FSH dystrophy","FSHD","Facioscapulohumeral muscular dystrophy","Facioscapulohumeral myopathy","Landouzy-Dejerine dystrophy","Landouzy-Dejerine myopathy"],"definition":"A rare neuromuscular disease characterized by progressive muscle weakness with focal involvement of the facial, shoulder and limb muscles.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-269/","orphanet_url":"https://www.orpha.net/en/disease/detail/269","names":{"fr":{"name":"Dystrophie facio-scapulo-humérale","synonyms":["Dystrophie FSH","Dystrophie de Landouzy-Dejerine","Dystrophie musculaire facio-scapulo-humérale","FSHD","Myopathie de Landouzy-Dejerine","Myopathie facio-scapulo-humérale"],"definition":"Maladie neuromusculaire rare caractérisée par une faiblesse musculaire progressive avec une atteinte focale des muscles faciaux, des épaules et des membres."},"de":{"name":"Muskeldystrophie, fazio-skapulo-humerale","synonyms":["FSH-Dystrophie","FSHD","Fazioskapulohumerale Muskeldystrophie","Landouzy-Déjérine-Dystrophie","Landouzy-Déjérine-Syndrom","Muskeldystrophie Landouzy-Dejerine"],"definition":"Eine seltene neuromuskuläre Erkrankung, die durch fortschreitende Muskelschwäche mit fokaler Beteiligung der Gesichts-, Schulter- und Gliedmaßenmuskulatur gekennzeichnet ist."},"es":{"name":"Distrofia facioescapulohumeral","synonyms":["Distrofia FSH","Distrofia de Landouzy-Dejerine","Distrofia muscular facioescapulohumeral","FSHD","Miopatía de Landouzy-Déjerine","Miopatía facioescapulohumeral"],"definition":"Es una enfermedad neuromuscular poco frecuente caracterizada por debilidad muscular progresiva con afectación focal de los músculos de la cara, de los hombros y de las extremidades."},"it":{"name":"Distrofia facio-scapolo-omerale","synonyms":["Distrofia FSH","Distrofia muscolare facio-scapolo-omerale","FSHD","Miopatia di Landouzy-Dejerine","Miopatia facio-scapolo-omerale"],"definition":"La distrofia facio-scapolo-omerale (FSHD) è una malattia neuromuscolare rara, caratterizzata da debolezza muscolare progressiva con interessamento focale dei muscoli del viso, delle spalle e degli arti."},"nl":{"name":"Facioscapulohumerale dystrofie","synonyms":["Dystrofie van Landouzy-Dejerine","FSH-dystrofie","FSHD","Facioscapulohumerale myopathie","Facioscapulohumerale spierdystrofie","Myopathie van Landouzy-Dejerine"],"definition":"Een zeldzame neuromusculaire aandoening, gekenmerkt door progressieve spierzwakte met focale betrokkenheid van spieren van aangezicht, schouders en ledematen."},"pt":{"name":"Distrofia facioscapulohumeral","definition":"A distrofia muscular facioscapulohumeral (FSHD) é caracterizada por fraqueza muscular progressiva com envolvimento focal dos músculos da face, ombro e braço."},"pl":{"name":"Dystrofia mięśniowa twarzowo-łopatkowo-ramienna","synonyms":["Dystrofia FSH","Dystrofia mięśniowa Landouzy'ego i Dejerine'a","Dystrofia twarzowo-łopatkowo-ramienna","FSHD","Miopatia twarzowo-łopatkowo-ramienna"],"definition":"Rzadka choroba nerwowo-mięśniowa charakteryzująca się postępującym osłabieniem mięśni z ogniskowym zajęciem mięśni twarzy, ramion i kończyn."},"cs":{"name":"FSHD","synonyms":["Facioskapulohumerální dystrofie","FSH dystrofie","Facioskapulohumerální svalová dystrofie","Facioskapulohumerální myopatie","Landouzyho-Dejerinova myopatie","Landouzy-Dejerinova myopatie"]},"uk":{"name":"Лице-лопатково-плечова дистрофія","synonyms":["Фаціоскапулоплечова мязова дистрофія","Фаціоскапулоплечова міопатія","Дистрофія ФСГ","FSHD","Дистрофія Ландузі-Дежеріна","Міопатія Ландузі-Дежеріна"],"definition":"A rare neuromuscular disease characterized by progressive muscle weakness with focal involvement of the facial, shoulder and limb muscles."},"zh":{"name":"面肩肱型营养不良","synonyms":["面肩肱肌营养不良"]},"tr":{"name":"Fasiyoskapulohumeral distrofi","synonyms":["FSHD","FSH distrofisi","Landouzy-Dejerine miyopatisi","Fasiyoskapulohumeral miyopati","Fasiyoskapulohumeral kas distrofisi"]}},"xrefs":[{"source":"OMIM","code":"158900","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"158901","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"600416","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619477","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619478","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"8C70.3","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"621965073"},{"source":"MONDO","code":"0001347","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D020391","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0238288","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9941","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10064087","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":206644,"name":"Progressive muscular dystrophy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"DUX4","name":"double homeobox 4","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"50800","ensembl":"ENSG00000260596","omim":"606009","loci":["4q35.2"]},{"symbol":"DUX4L1","name":"double homeobox 4 like 1 (pseudogene)","gene_type":"Non-coding RNA","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"3082","ensembl":"ENSG00000280757","omim":null,"loci":["4q35.2"]},{"symbol":"FRG1","name":"FSHD region gene 1","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"23300487[PMID]_23525014[PMID]_23720823[PMID]","hgnc":"3954","ensembl":"ENSG00000109536","omim":"601278","loci":["4q35.2"]},{"symbol":"SMCHD1","name":"structural maintenance of chromosomes flexible hinge domain containing 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23143600[PMID]_24128691[PMID]","hgnc":"29090","ensembl":"ENSG00000101596","omim":"614982","loci":["18p11.32"]},{"symbol":"DNMT3B","name":"DNA methyltransferase 3 beta","gene_type":"gene with protein product","association":"Modifying germline mutation in","status":"Assessed","source":"27153398[PMID]","hgnc":"2979","ensembl":"ENSG00000088305","omim":"602900","loci":["20q11.21"]},{"symbol":"SMCHD1","name":"structural maintenance of chromosomes flexible hinge domain containing 1","gene_type":"gene with protein product","association":"Modifying germline mutation in","status":"Assessed","source":"24075187[PMID]","hgnc":"29090","ensembl":"ENSG00000101596","omim":"614982","loci":["18p11.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.5,"area":"Europe","status":"Validated","source":"19320656[PMID]_22217918[PMID]_19767415[PMID]_[EXPERT]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.4,"area":"Italy","status":"Validated","source":"19320656[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.95,"area":"United Kingdom","status":"Validated","source":"19767415[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"Japan","status":"Validated","source":"1745328[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":12.0,"area":"Netherlands","status":"Validated","source":"25122204[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.3,"area":"Netherlands","status":"Validated","source":"25122204[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-03-26","source":"20301616[PMID]_27922500[PMID]_PNDS 2021[OTHER]","terms":[{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000298","label":"Mask-like facies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003323","label":"Progressive muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003691","label":"Scapular winging","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009023","label":"Abdominal wall muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008046","label":"Abnormal retinal vascular morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030664","label":"Beevor's sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100595","label":"Camptocormia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012532","label":"Chronic pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000509","label":"Conjunctivitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004673","label":"Decreased facial expression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008959","label":"Distal upper limb muscle weakness","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:0002359","label":"Frequent falls","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000491","label":"Keratitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003325","label":"Limb-girdle muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030002","label":"Nocturnal lagophthalmos","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012037","label":"Pectoralis amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001538","label":"Protuberant abdomen","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002091","label":"Restrictive ventilatory defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011712","label":"Right bundle branch block","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003376","label":"Steppage gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006587","label":"Straight clavicles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030319","label":"Weakness of facial musculature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007898","label":"Exudative retinopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000541","label":"Retinal detachment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005115","label":"Supraventricular arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Occasional (29-5%)","criteria":null}]}}