{"orpha":98893,"name":"Congenital muscular dystrophy type 1B","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMD1B","MDC1B"],"definition":"Congenital muscular dystrophy type 1B is a rare, genetic neuromuscular disorder characterized by proximal and symmetrical muscle weakness (particularly of neck, sternomastoid, facial and diaphragm muscles), spinal rigidity, joint contractures (Achilles tendon, elbows, hands), generalized muscle hypertrophy and early respiratory failure (usually in the first decade of life). Patients typically present delayed motor milestones and grossly elevated serum creatine kinase levels, and with disease progression, forced expiratory abdominal squeeze and nocturnal hypoventilation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98893/","orphanet_url":"https://www.orpha.net/en/disease/detail/98893","names":{"fr":{"name":"Dystrophie musculaire congénitale type 1B","synonyms":["CMD1B","DMC1B","MDC1B"],"definition":"Une maladie génétique neuromusculaire rare caractérisée par une faiblesse musculaire proximale symétrique (affectant surtout les muscles du cou et les muscles faciaux, sterno-mastoïdiens et diaphragmatiques), une rigidité vertébrale, des contractures articulaires (tendons d'Achille, coudes, mains), une hypertrophie musculaire généralisée, et une insuffisance respiratoire précoce (survenant habituellement pendant la première décennie). Les patients présentent généralement un retard d'acquisition des étapes motrices cruciales et des taux très élevés de créatine kinase sérique, et, avec lorsque la maladie progresse, une compression abdominale forcée à l'expiration et une hypoventilation nocturne."},"de":{"name":"Muskeldystrophie, kongenitale, Typ 1B","synonyms":["CMD1B","MDC1B"],"definition":"Die kongenitale Muskeldystrophie Typ 1B ist eine seltene, genetisch bedingte neuromuskuläre Erkrankung, die durch proximale und symmetrische Muskelschwäche (insbesondere der Nacken-, Sternomastoideus-, Gesichts- und Zwerchfellmuskulatur), Wirbelsäulensteifigkeit, Gelenkkontrakturen (Achillessehne, Ellenbogen, Hände), generalisierte Muskelhypertrophie und frühes respiratorisches Versagen (meist im ersten Lebensjahrzehnt) gekennzeichnet ist. Die Patienten zeigen typischerweise verzögerte motorische Meilensteine und grob erhöhte Serum-Kreatinkinase-Werte, und mit Fortschreiten der Erkrankung forcierte exspiratorische Bauchpresse und nächtliche Hypoventilation."},"es":{"name":"Distrofia muscular congénita tipo 1B","synonyms":["CMD1B","MDC1B"],"definition":"La distrofia muscular congénita tipo 1B es un trastorno neuromuscular genético poco frecuente, que se caracteriza por debilidad muscular proximal y simétrica (en particular músculos del cuello, esternocleidomastoideos, faciales y diafragmáticos), rigidez espinal, contracturas articulares (tendón de Aquiles, codos, manos), hipertrofia muscular generalizada e insuficiencia respiratoria temprana (generalmente en la primera década de vida). Los afectados suelen presentar retraso de las adquisiciones motoras y niveles de creatina quinasa sérica muy elevados, y con la progresión de la enfermedad, compresión abdominal espiratoria forzada e hipoventilación nocturna."},"it":{"name":"Distrofia muscolare congenita, tipo 1B","synonyms":["CMD1B","MDC1B"],"definition":"La distrofia muscolare congenita tipo 1B è una malattia rara neuromuscolare di origine genetica, caratterizzata da debolezza simmetrica dei muscoli prossimali (in particolare quelli del collo, lo sternomastoideo, i muscoli facciali e il diaframma), rigidità della colonna vertebrale, contratture articolari (tendine d'Achille, gomiti, mani), ipertrofia muscolare generalizzata e insufficienza respiratoria ad esordio precoce (di solito nella prima decade di vita). In genere i pazienti presentano ritardo dello sviluppo motorio e livelli molto elevati di creatina chinasi nel siero e, con la progressione della malattia, una forzata compressione addominale durante l'espirazione e ipoventilazione durante la notte."},"nl":{"name":"Congenitale spierdystrofie type 1B","synonyms":["CMD1B","MDC1B"],"definition":"Congenitale spierdystrofie type 1B is een zeldzame, genetische neuromusculaire stoornis die gekarakteriseerd wordt door proximale en symmetrische spierzwakte (voornamelijk van de nek-, sternomastoïd-, gelaats- en diafragmaspieren), starheid van de wervelkolom, gewrichtscontracturen (Achillespees, ellebogen, handen), gegeneraliseerde spierhypertrofie en vroege respiratoire insufficiëntie (meestal tijdens het eerste levensdecennium). Patiënten vertonen doorgaans vertraagde motorische mijlpalen en sterk verhoogde gehaltes creatinekinase in het serum, en naarmate de ziekte evolueert, geforceerde expiratoire abdominale ademhaling en nachtelijke hypoventilatie."},"pt":{"name":"Distrofia muscular congénita, tipo 1b"},"pl":{"name":"Wrodzona dystrofia mięśniowa typu 1B","synonyms":["CMD1B","MDC1B"]},"cs":{"name":"Vrozená svalová dystrofie, typ 1B","synonyms":["CMD1B","MDC1B"]},"uk":{"name":"Вроджена мязова дистрофія, тип 1В","synonyms":["CMD1B","MDC1B"],"definition":"Congenital muscular dystrophy type 1B is a rare, genetic neuromuscular disorder characterized by proximal and symmetrical muscle weakness (particularly of neck, sternomastoid, facial and diaphragm muscles), spinal rigidity, joint contractures (Achilles tendon, elbows, hands), generalized muscle hypertrophy and early respiratory failure (usually in the first decade of life). Patients typically present delayed motor milestones and grossly elevated serum creatine kinase levels, and with disease progression, forced expiratory abdominal squeeze and nocturnal hypoventilation."},"zh":{"name":"先天性肌营养不良症IB型","synonyms":["CMD1B","MDC1B"],"definition":"先天性肌营养不良1B型是一种罕见的遗传性神经肌肉疾病，其特征是近端和对称性肌肉无力(特别是颈部、胸锁乳突肌、面部和横隔肌)、脊柱僵硬、关节挛缩(跟腱、肘部、手)、全身性肌肉肥大和早期呼吸衰竭(通常在十岁之内)。患者通常表现为运动发育里程碑延迟和血清肌酸激酶水平显著升高，并且随着疾病的进展，出现强迫呼气性腹部挤压和夜间低通气。"},"tr":{"name":"Doğumsal kas distrofisi tip 1B","synonyms":["CMD1B","MDC1B"]}},"xrefs":[{"source":"OMIM","code":"604801","qualifier":"E","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":"222998722"},{"source":"MONDO","code":"0011486","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565748","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1858118","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":97242,"name":"Congenital muscular dystrophy","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"10677302[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_10677302[PMID]"}],"phenotypes":null}