{"orpha":370980,"name":"Congenital muscular dystrophy without intellectual disability","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMD without intellectual disability","CMD-no MR","Congenital muscular dystrophy-dystroglycanopathy without intellectual disability"],"definition":"A rare, genetic, congenital muscular dystrophy due to dystroglycanopathy characterized by a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy, delayed or arrested motor development, and normal intellectual abilities with normal (or only mild abnormalities) neuroimaging studies. Feeding difficulties, joint and spinal deformities, and respiratory insufficiency may be associated. Decreased alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-370980/","orphanet_url":"https://www.orpha.net/en/disease/detail/370980","names":{"fr":{"name":"Dystrophie musculaire congénitale sans déficience intellectuelle","synonyms":["CMD sans déficience intellectuelle","CMD-no MR","DMC sans déficience intellectuelle","Dystrophie musculaire congénitale-dystroglycanopathie sans déficience intellectuelle"],"definition":"Dystrophie musculaire congénitale rare et génétique due à une dystroglycanopathie, caractérisée par un large spectre phénotypique, à type d'hypotonie et de faiblesse musculaire se manifestant à la naissance ou pendant la petite enfance, de retard ou d'arrêt du développement moteur, sans déficience intellectuelle et sans anomalies (ou seulement des anomalies légères) observées à l'imagerie cérébrale. Des difficultés à s'alimenter, des déformations des articulations et de la colonne vertébrale, et une insuffisance respiratoire peuvent être associées. Une réduction de la glycosylation de l'alpha-dystroglycane visible par coloration immunohistochimique des muscles et des taux élevés de créatine kinase sérique sont observés."},"de":{"name":"Kongenitale Muskeldystrophie ohne Intelligenzminderung","synonyms":["CMD ohne Intelligenzminderung","Kongenitale Muskeldystrophie mit Dystroglykanopathie ohne Intelligenzminderung"]},"es":{"name":"Distrofia muscular congénita sin discapacidad intelectual","synonyms":["DMC sin discapacidad intelectual","Distrofia-distroglicanopatía muscular congénita sin discapacidad intelectual"],"definition":"La distrofia muscular congénita sin discapacidad intelectual, es una distrofia muscular congénita, genética y poco frecuente, debida a un trastorno por distroglicanopatía caracterizada por un amplio espectro fenotípico que incluye hipotonía y debilidad muscular presente al nacimiento o en la primera infancia, retraso o detención del desarrollo motor y con habilidades intelectuales normales con estudios de neuroimagen normales (o con anomalías leves). Puede tener asociadas dificultades en la alimentación, malformaciones articulares y espinales e insuficiencia respiratoria. Se observa una disminución de alfa-distroglicano en estudios inmunohistoquímicos realizados en biopsias musculares y un aumento de la creatinquinasa sérica."},"it":{"name":"Distrofia muscolare congenita senza disabilità intellettiva","synonyms":["CMD senza deficit cognitivo","CMD-no MR","Distrofia muscolare congenita-distroglicanopatia senza disabilità intellettiva"],"definition":"La distrofia muscolare congenita senza disabilità intellettiva è una distrofia muscolare congenita genetica rara, causata da una distroglicanopatia. Il quadro clinico è eterogeno con ipotonia e debolezza muscolare congenita o ad esordio nella prima infanzia e ritardo o arresto dello sviluppo motorio. L'intelligenza è normale; le neuroimmagini sono normali o mostrano lievi anomalie. Può associarsi a difficoltà di alimentazione, deformità articolari e della colonna, e insufficienza respiratoria. La colorazione immunoistochimica dei muscoli evidenzia una riduzione di alfa-distroglicano. I livelli di creatin-chinasi nel siero sono aumentati."},"nl":{"name":"Congenitale musculaire dystrofie zonder intellectuele achterstand","synonyms":["CMD zonder intellectuele achterstand","CMD-geen MR","Congenitale musculaire dystrofie-dystroglycanopathie zonder intellectuele achterstand"],"definition":"Congenitale spierdystrofie zonder intellectuele achterstand is een zeldzame, genetische, congenitale musculaire dystrofie als gevolg van dystroglycanopathie, en wordt gekarakteriseerd door een breed fenotypisch spectrum met onder meer hypotonie en spierzwakte aanwezig bij de geboorte of in de vroege zuigelingentijd, vertraagde of stilgevallen motorische ontwikkeling, en normale intellectuele vaardigheden met normale (of slechts mild afwijkende) neurologische beeldvormingsonderzoeken. Voedingsproblemen, misvormingen van gewrichten en de ruggengraat, en respiratoire insufficiëntie kunnen geassocieerd zijn. Bij immunohistochemische kleuring van spierweefsel wordt een verminderde hoeveelheid alfa-dystroglycan waargenomen, en het gehalte van creatinekinase in het serum is verhoogd."},"pt":{"name":"Distrofia muscular congénita sem perturbação do desenvolvimento intelectual","synonyms":["CMD sem perturbação do desenvolvimento intelectual","CMD-no MR","Distrofia muscular congénita-distroglicanopatia sem perturbação do desenvolvimento intelectual"]},"pl":{"name":"Wrodzona dystrofia mięśniowa bez niepełnosprawności intelektualnej","synonyms":["CMD bez niepełnosprawności intelektualnej","CMD-no MR"]},"cs":{"name":"Vrozená svalová dystrofie bez mentální retardace","synonyms":["CMD bez mentální retardace","CMD-no MR"]},"uk":{"name":"Вроджена мязова дистрофія без інтелектуальної недостатності","synonyms":["ВМД без інтелектуальної недостатності","CMD - без MR","Вроджена мязова дистрофія-дистрогліанопатія без інтелектуальної недостатності"],"definition":"A rare, genetic, congenital muscular dystrophy due to dystroglycanopathy characterized by a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy, delayed or arrested motor development, and normal intellectual abilities with normal (or only mild abnormalities) neuroimaging studies. Feeding difficulties, joint and spinal deformities, and respiratory insufficiency may be associated. Decreased alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed."},"zh":{"name":"先天性肌营养不良不伴智力障碍","synonyms":["先天性肌营养不良-抗肌萎缩相关糖蛋白病不伴智力障碍"],"definition":"先天性肌营养不良不伴智力障碍是一种由抗萎缩相关糖蛋白病所引起的罕见的遗传性先天性肌营养不良，本病表型谱广，包括出生或婴儿早期的肌张力低和肌无力，运动发育迟缓或停滞及智力和神经影像学检查正常(或仅有影像学轻度异常)。喂养困难、关节和脊柱畸形以及呼吸功能不全可能与本病有关。免疫组织化学肌肉染色显示α-抗萎缩相关蛋白减少，血清肌酸激酶升高。"},"tr":{"name":"Zihinsel yetersizlik olmayan doğumsal kas distrofisi","synonyms":["CMD-MR olmadan","Zihinsel yetersizlik ile seyretmeyen CMD","Zihinsel yetersizlik olmayan doğumsal kas distrofisi-distroglikanopati"]}},"xrefs":[{"source":"OMIM","code":"606612","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613152","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":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0018279","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"1040033","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"18279","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190847","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":371047,"name":"Congenital disorder of glycosylation with neurological involvement","classifications":[156,181]},{"orpha":370953,"name":"Congenital muscular dystrophy due to dystroglycanopathy","classifications":[156,181]},{"orpha":309469,"name":"Disorder of O-mannosylglycan synthesis","classifications":[150,156]}],"children":[],"genes":[{"symbol":"CRPPA","name":"CDP-L-ribitol pyrophosphorylase A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23288328[PMID]","hgnc":"37276","ensembl":"ENSG00000214960","omim":"614631","loci":["7p21.2"]},{"symbol":"FKRP","name":"fukutin related protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21397493[PMID]","hgnc":"17997","ensembl":"ENSG00000181027","omim":"606596","loci":["19q13.32"]},{"symbol":"FKTN","name":"fukutin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21397493[PMID]","hgnc":"3622","ensembl":"ENSG00000106692","omim":"607440","loci":["9q31.2"]},{"symbol":"POMT1","name":"protein O-mannosyltransferase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21397493[PMID]","hgnc":"9202","ensembl":"ENSG00000130714","omim":"607423","loci":["9q34.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Annual incidence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-07-18","source":"11592034[PMID]_19299310[PMID]","terms":[{"hpo":"HP:0003560","label":"Muscular dystrophy","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001771","label":"Achilles tendon contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003458","label":"EMG: myopathic abnormalities","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001349","label":"Facial diplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012548","label":"Fatty replacement of skeletal muscle","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:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003324","label":"Generalized muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003797","label":"Limb-girdle muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008180","label":"Mildly elevated creatine kinase","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007126","label":"Proximal amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030099","label":"Reduced muscle fiber alpha dystroglycan","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030051","label":"Tip-toe gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002350","label":"Cerebellar cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002282","label":"Gray matter heterotopia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001302","label":"Pachygyria","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Excluded (0%)","criteria":"Diagnostic criterion"}]}}