{"orpha":75840,"name":"Ullrich congenital muscular dystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["UCMD","Ullrich scleroatonic muscular dystrophy"],"definition":"A form of congenital muscular dystrophy characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, with a loss of ambulation (if achieved) and uniform respiratory insufficiency during childhood.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-75840/","orphanet_url":"https://www.orpha.net/en/disease/detail/75840","names":{"fr":{"name":"Dystrophie musculaire congénitale d'Ullrich","synonyms":["Dystrophie musculaire scléro-atonique d'Ullrich","UCMD"],"definition":"Forme de dystrophie musculaire congénitale caractérisée par une faiblesse congénitale, une hypotonie, des contractures des articulations proximales, une hyperlaxité marquée des articulations distales, avec une perte de mobilité (si la marche est acquise) et une insuffisance respiratoire uniforme pendant l'enfance."},"de":{"name":"Muskeldystrophie, kongenitale, Typ Ullrich","synonyms":["Muskeldystrophie, sklero-atonische","UCMD","Ullrich-CMD"],"definition":"Eine Form der kongenitalen Muskeldystrophie, die durch angeborene Schwäche, Hypotonie, Kontrakturen der proximalen Gelenke, ausgeprägte Hyperlaxität der distalen Gelenke, Verlust der Gehfähigkeit (sofern erreicht) und gleichmäßige Ateminsuffizienz im Kindesalter gekennzeichnet ist."},"es":{"name":"Distrofia muscular congénita de Ullrich","synonyms":["DMCU","Distrofia muscular escleroatónica de Ulrich"],"definition":"Es una forma de distrofia muscular congénita caracterizada por debilidad congénita, hipotonía, contracturas de las articulaciones proximales y marcada hiperlaxitud de las articulaciones distales, con pérdida de la deambulación (si se logra) e insuficiencia respiratoria uniforme durante la infancia."},"it":{"name":"Distrofia muscolare congenita di Ullrich","synonyms":["Distrofia muscolare scleroatonica di Ullrich","UCMD"]},"nl":{"name":"Congenitale spierdystrofie, Ullrich-type","synonyms":["Scleroatonische spierdystrofie, Ullrich-type","UCMD"],"definition":"Een vorm van congenitale spierdystrofie, gekenmerkt door congenitale tot in de kindertijd optredende progressieve proximale spierzwakte, gewrichtscontracturen, en mogelijk respiratoire insufficiëntie in de volwassenheid."},"pt":{"name":"Distrofia muscular congénita Ullrich","synonyms":["Distrofia muscular escleroatónica Ullrich","UCMD"],"definition":"Uma forma de distrofia muscular congénita caracterizada por fraqueza congénita, hipotonia, contraturas articulares proximais, hipermobilidade acentuada das articulações distais, com perda da deambulação (se alcançada) e insuficiência respiratória uniforme durante a infância."},"pl":{"name":"Wrodzona dystrofia mięśniowa, typ Ullricha","synonyms":["Choroba Ullricha","Skleroatoniczna dystrofia mięśniowa","UCMD"]},"cs":{"name":"Vrozená svalová dystrofie typu Ullrich","synonyms":["Skleroatonická svalová dystrofie","UCMD","Ullrichova choroba"]},"uk":{"name":"Вроджена мязова дистрофія Ульріха","synonyms":["UCMD","Склероатонічна мязова дистрофія Ульріха"],"definition":"A form of congenital muscular dystrophy characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, with a loss of ambulation (if achieved) and uniform respiratory insufficiency during childhood."},"zh":{"name":"先天性肌营养不良症，Ullrich型","synonyms":["硬化性肌营养不良症"]},"tr":{"name":"Doğumsal kas distrofisi, Ullrich tipi","synonyms":["UCMD","Ullrich hastalığı","Skleroatonik kas distrofisi"]}},"xrefs":[{"source":"OMIM","code":"254090","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616470","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620727","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620728","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C70.6","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1011547453"},{"source":"MONDO","code":"0000355","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4551860","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4769","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":646098,"name":"Collagen VI-related congenital muscular dystrophy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"COL12A1","name":"collagen type XII alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24334604[PMID]","hgnc":"2188","ensembl":"ENSG00000111799","omim":"120320","loci":["6q13-q14.1"]},{"symbol":"COL6A1","name":"collagen type VI alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18366090[PMID]_20301676[PMID]","hgnc":"2211","ensembl":"ENSG00000142156","omim":"120220","loci":["21q22.3"]},{"symbol":"COL6A2","name":"collagen type VI alpha 2 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18366090[PMID]_20301676[PMID]","hgnc":"2212","ensembl":"ENSG00000142173","omim":"120240","loci":["21q22.3"]},{"symbol":"COL6A3","name":"collagen type VI alpha 3 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18366090[PMID]_20301676[PMID]","hgnc":"2213","ensembl":"ENSG00000163359","omim":"120250","loci":["2q37.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.13,"area":"United Kingdom","status":"Validated","source":"19767415[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-07-03","source":"11381124[PMID]","terms":[{"hpo":"HP:0004303","label":"Abnormal muscle fiber morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003458","label":"EMG: myopathic abnormalities","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003324","label":"Generalized muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005072","label":"Hyperextensibility at wrists","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100297","label":"Increased endomysial connective tissue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006149","label":"Increased laxity of fingers","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003557","label":"Increased variability in muscle fiber diameter","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003306","label":"Spinal rigidity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001181","label":"Adducted thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001558","label":"Decreased fetal movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009113","label":"Diaphragmatic weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002987","label":"Elbow flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000565","label":"Esotropia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002359","label":"Frequent falls","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003700","label":"Generalized amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006380","label":"Knee flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010511","label":"Long toe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008081","label":"Pes valgus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001238","label":"Slender finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000473","label":"Torticollis","frequency":"Frequent (79-30%)","criteria":null}]}}