{"orpha":97242,"name":"Congenital muscular dystrophy","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["CMD","MDC"],"definition":"A rare clinically and genetically heterogeneous group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness, delayed motor milestones and joint contractures. Feeding difficulty, orthopedic and respiratory complications, that may be life-threatening, often develop in the course of the disease. Intellectual disability, structural brain abnormalities, ocular abnormalities (such as optic atrophy, retinal changes), seizures and cardiomyopathy are also reported to be associated with different disorders belonging to this group. The histologic pattern of muscle anomalies is typical of dystrophic lesions but quite variable depending on the different stages and on the severity of the disorder.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-97242/","orphanet_url":"https://www.orpha.net/en/disease/detail/97242","names":{"fr":{"name":"Dystrophie musculaire congénitale","synonyms":["CMD","DMC","MDC"],"definition":"Groupe rare de maladies neuromusculaires cliniquement et génétiquement hétérogènes, apparaissant à la naissance ou pendant la petite enfance, caractérisées par une hypotonie, une faiblesse musculaire, un retard dans l'acquisition motrice et des contractures articulaires. Des difficultés à s'alimenter, des complications orthopédiques et respiratoires, pouvant engager le pronostic vital, apparaissent souvent au cours de la maladie. Une déficience intellectuelle, des anomalies structurelles du cerveau, des anomalies oculaires (telles qu'une atrophie optique, des modifications rétiniennes), des convulsions et une cardiomyopathie sont également associées à différentes maladies appartenant à ce groupe. Le profil histologique des anomalies musculaires est typique des lésions dystrophiques, mais varie considérablement selon les différents stades et la gravité de la maladie."},"de":{"name":"Muskeldystrophie, kongenitale","synonyms":["CMD","MDC"],"definition":"Eine klinisch und genetisch heterogene Gruppe neuromuskulärer Störungen mit Beginn bei der Geburt oder im Säuglingsalter, die durch Hypotonie, Muskelschwäche, verzögerte motorische Meilensteine und Gelenkkontrakturen gekennzeichnet sind. Im Verlauf der Krankheit kommt es häufig zu Schwierigkeiten bei der Nahrungsaufnahme sowie zu orthopädischen und respiratorischen Komplikationen, die lebensbedrohlich sein können. Intelligenzminderung, strukturelle Hirnanomalien, Augenanomalien (z. B. Optikusatrophie, Netzhautveränderungen), Krampfanfälle und Kardiomyopathie werden ebenfalls mit verschiedenen Erkrankungen aus dieser Gruppe in Verbindung gebracht. Das histologische Muster der Muskelanomalien ist typisch für dystrophische Läsionen, aber je nach den verschiedenen Stadien und dem Schweregrad der Erkrankung recht variabel."},"es":{"name":"Distrofia muscular congénita","synonyms":["CMD","MDC"],"definition":"Es un grupo de trastornos neuromusculares poco frecuente, clínica y genéticamente heterogéneo, de inicio al nacer o en el periodo de lactancia, caracterizado por hipotonía, debilidad muscular, retraso en el desarrollo de los hitos motores y contracturas articulares. A lo largo de la enfermedad, suelen presentarse dificultades para alimentarse y complicaciones ortopédicas y respiratorias, que pueden ser potencialmente mortales. También se ha descrito que la discapacidad intelectual, las anomalías cerebrales estructurales, las alteraciones oculares (como la atrofia óptica y los cambios retinianos), las crisis epilépticas y la miocardiopatía se asocian con diferentes trastornos pertenecientes a este grupo. El patrón histológico de las anomalías musculares es típico de las lesiones distróficas, pero varía considerablemente según los diferentes estadios y la gravedad del trastorno."},"it":{"name":"Distrofia muscolare congenita","synonyms":["CMD","MDC"]},"nl":{"name":"Congenitale spierdystrofie","synonyms":["CMD","MDC"],"definition":"Een zeldzame, klinisch en genetisch heterogene groep van neuromusculaire aandoeningen met aanvang bij de geboorte of in de zuigelingentijd, gekenmerkt door hypotonie, spierzwakte, vertraagde motorische mijlpalen en gewrichtscontracturen. Tijdens het verloop van de ziekte ontwikkelen zich vaak voedingsproblemen, en orthopedische en respiratoire complicaties, die levensbedreigend kunnen zijn. Intellectuele achterstand, structurele hersenafwijkingen, oculaire afwijkingen (zoals opticusatrofie, veranderingen van netvlies), insulten en cardiomyopathie worden ook gerapporteerd als zijnde geassocieerd met verschillende aandoeningen die tot deze groep behoren. Het histologische patroon van spieranomalieën is typisch voor dystrofische laesies maar nogal variabel afhankelijk van het stadium en de ernst van de aandoening."},"pt":{"name":"Distrofia muscular, congénita"},"pl":{"name":"Wrodzona dystrofia mięśniowa","synonyms":["CMD","MDC"]},"cs":{"name":"Vrozené svalové dystrofie","synonyms":["CMD","MDC"]},"uk":{"name":"Вроджена мязова дистрофія","synonyms":["CMD","MDC"],"definition":"Congenital muscular dystrophy (CMD) is a heterogeneous group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle wasting, weakness or delayed motor milestones. The group includes myopathies with abnormalities at different cellular levels: the extracellular matrix (MDC1A, UCMD; see these terms), the dystrophin-associated glycoprotein complex (alphadystroglycanopathies, integrinopathies see these terms), the endoplasmic reticulum (rigid spine syndrome [RSMD1], and the nuclear envelope (LMNA-related CMD; [L-CMD] and Nesprin-1-related CMD; see these terms)."},"zh":{"name":"先天性肌营养不良","synonyms":["CMD","MDC"]},"tr":{"name":"Doğumsal kas distrofisi","synonyms":["CMD","MDC"]}},"xrefs":[{"source":"ICD-11","code":"8C70.6","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"396687076"},{"source":"MONDO","code":"0019950","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0699743","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9138","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":98468,"name":"OBSOLETE: Congenital muscular dystrophy due to extracellular matrix protein anomaly","status":"inactive"},{"type":"Referred to","orpha":98469,"name":"OBSOLETE: Congenital muscular dystrophy due to glycosyltransferase anomaly","status":"inactive"},{"type":"Referred to","orpha":98470,"name":"OBSOLETE: Congenital muscular dystrophy due to proteins of the endoplasmic reticulum anomaly","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98473,"name":"Muscular dystrophy","classifications":[156,181]}],"children":[{"orpha":319332,"name":"Autosomal recessive myogenic arthrogryposis multiplex congenita","type":"Disease"},{"orpha":646098,"name":"Collagen VI-related congenital muscular dystrophy","type":"Clinical group"},{"orpha":157973,"name":"Congenital muscular dystrophy due to LMNA mutation","type":"Disease"},{"orpha":370953,"name":"Congenital muscular dystrophy due to dystroglycanopathy","type":"Category"},{"orpha":98893,"name":"Congenital muscular dystrophy type 1B","type":"Disease"},{"orpha":371007,"name":"Congenital muscular dystrophy with hyperlaxity","type":"Disease"},{"orpha":34520,"name":"Congenital muscular dystrophy with integrin alpha-7 deficiency","type":"Disease"},{"orpha":662184,"name":"Congenital muscular dystrophy-cataract-intellectual disability syndrome","type":"Disease"},{"orpha":1875,"name":"Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome","type":"Disease"},{"orpha":486815,"name":"Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome","type":"Disease"},{"orpha":199329,"name":"Congenital myopathy, Paradas type","type":"Disease"},{"orpha":258,"name":"Laminin subunit alpha 2-related congenital muscular dystrophy","type":"Malformation syndrome"},{"orpha":280671,"name":"Megaconial congenital muscular dystrophy","type":"Disease"},{"orpha":536516,"name":"Myopathic Ehlers-Danlos syndrome","type":"Disease"},{"orpha":97244,"name":"Rigid spine syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.563,"area":"Italy","status":"Validated","source":"25653289[PMID]"}],"phenotypes":null}