{"orpha":588,"name":"Muscle-eye-brain disease","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["MEB syndrome","Muscle-eye-brain syndrome","Santavuori congenital muscular dystrophy"],"definition":"A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by early onset muscular dystrophy, severe muscular hypotonia, severe intellectual disability and typical brain and eye malformations including pachygyria, polymicrogyria, agyria, brainstem and cerebellar structural anomalies, severe myopia, glaucoma, optic nerve and retinal hypoplasia. A broad clinical spectrum is observed with variable involvement of each organ system.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-588/","orphanet_url":"https://www.orpha.net/en/disease/detail/588","names":{"fr":{"name":"Syndrome muscle-oeil-cerveau","synonyms":["Dystrophie musculaire congénitale de Santavuori","MEB disease","Syndrome MEB","Syndrome muscle-eye-brain"],"definition":"Dystrophie musculaire congénitale rare due à une dystroglycanopathie caractérisée par une dystrophie musculaire à début précoce, une hypotonie musculaire sévère, une déficience intellectuelle sévère et des malformations cérébrales et oculaires typiques, notamment la pachygyrie, la polymicrogyrie, l'agyrie, des anomalies structurelles du tronc cérébral et du cervelet, une myopie sévère, un glaucome, une hypoplasie du nerf optique et de la rétine. Le spectre clinique observé est large et l'atteinte varie suivant le système organique."},"de":{"name":"Muskel-Augen-Gehirn-Krankheit","synonyms":["Kongenitale Muskeldystrophie Typ Santavuori","MEB-Krankheit","MEBD","Muscle-Eye-Brain-Erkrankung","Santavuori-Krankheit"],"definition":"Eine seltene kongenitale Muskeldystrophie aus der Gruppe der Dystroglykanopathien, die gekennzeichnet ist durch eine früh einsetzende Muskeldystrophie, eine schwere Muskelhypotonie, eine schwere Intelligenzminderung und typische Fehlbildungen des Gehirns und der Augen, einschließlich Pachygyrie, Polymikrogyrie, Agyrie, strukturelle Anomalien des Hirnstamms und des Kleinhirns, schwere Myopie, Glaukom, Hypoplasie des Sehnervs und der Netzhaut. Es wird ein breites klinisches Spektrum mit unterschiedlicher Beteiligung der einzelnen Organsysteme beobachtet."},"es":{"name":"Enfermedad de músculo-ojo-cerebro","synonyms":["Distrofia muscular congénita de Santavuori","Síndrome MEB","Síndrome de músculo-ojo-cerebro"],"definition":"Es una distrofia muscular congénita poco frecuente debida a una distroglicanopatía caracterizada por distrofia muscular de inicio precoz, hipotonía muscular grave, discapacidad intelectual profunda y malformaciones oculares y cerebrales típicas, como paquigiria, polimicrogiria, agiria, anomalías estructurales del tronco encefálico y del cerebelo, miopía grave, glaucoma, e hipoplasia retiniana y del nervio óptico. Se observa un amplio espectro clínico con afectación variable de cada sistema orgánico."},"it":{"name":"Malattia muscolo-occhio-cervello","synonyms":["Distrofia muscolare congenita di Santavuori","Sindrome MEB","Sindrome muscolo-occhio-cervello"],"definition":"Si tratta di una distrofia muscolare congenita rara, causata da una distroglicanopatia, caratterizzata da distrofia muscolare ad esordio precoce, grave ipotonia muscolare, ritardo mentale grave e malformazioni cerebrali e oculari caratteristiche (pachigiria, polimicrogiria, agiria, anomalie della struttura del tronco encefalico e del cervelletto, miopia grave, glaucoma, ipoplasia del nervo ottico e della retina). I pazienti possono presentare crisi epilettiche, macrocefalia o microcefalia, microftalmia e contratture congenite. A seconda della gravità della malattia, i pazienti vanno incontro a una limitazione della funzione motoria. Sono stati descritti anche casi meno gravi."},"nl":{"name":"Spier-oog-hersenziekte","synonyms":["MEB-syndroom","Muscle-eye-brain disease","Muscle-eye-brain syndroom","Santavuori congenitale musculaire dystrofie","Spier-oog-hersenen-syndroom","Spier-oog-hersensyndroom"],"definition":"Een zeldzame, congenitale spierdystrofie als gevolg van dystroglycanopathie, gekenmerkt door vroeg optredende spierdystrofie, ernstige musculaire hypotonie, ernstige intellectuele achterstand en typische malformaties van hersenen en oog, waaronder pachygyrie, polymicrogyrie, agyrie, structurele anomalieën van hersenstam en cerebellum, ernstige myopie, glaucoom, en hypoplasie van oogzenuw en retina. Er wordt een breed klinisch spectrum waargenomen, met variabele betrokkenheid van elk orgaansysteem."},"pt":{"name":"Doença músculo-olho-cérebro","synonyms":["Doença de Santavuori","Síndrome MEB"],"definition":"Distrofia muscular congénita rara devido a distroglicanopatia caracterizada por distrofia muscular de início precoce, hipotonia muscular grave, perturbação intelectual grave e malformações cerebrais e oculares típicas, incluindo paquigiria, polimicrogiria, agiria, anomalias estruturais do tronco cerebral e do cerebelo, miopia grave, glaucoma e hipoplasia do nervo óptico e retiniana. Observa-se um amplo espectro clínico com envolvimento variável de cada sistema de órgãos."},"pl":{"name":"Choroba mięsień-oko-mózg","synonyms":["Wrodzona dystrofia mięśniowa Santavuori","Zespół MEB","Zespół mięsień-oko-mózg"]},"cs":{"name":"Choroba s postižením svalů, očí a mozku","synonyms":["MEB syndrom","Santavuoriho vrozená svalová dystrofie","Syndrom s postižením svalů, očí a mozku"]},"uk":{"name":"Хвороба мязів-очей-мозку","synonyms":["MEB-синдром","Мязово-очно-мозковий синдром","Вроджена мязова дистрофія Сантавуорі"],"definition":"A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by early onset muscular dystrophy, severe muscular hypotonia, severe intellectual disability and typical brain and eye malformations including pachygyria, polymicrogyria, agyria, brainstem and cerebellar structural anomalies, severe myopia, glaucoma, optic nerve and retinal hypoplasia. A broad clinical spectrum is observed with variable involvement of each organ system."},"zh":{"name":"肌-眼-脑病","synonyms":["Santavuori型先天性肌营养不良症"]},"tr":{"name":"Kas-göz-beyin hastalığı","synonyms":["MEB sendromu","Kas-göz-beyin sendromu","Santavuori Doğumsal kas distrofisi"]}},"xrefs":[{"source":"OMIM","code":"236670","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"253280","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"253800","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613150","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613153","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613154","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615181","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615350","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":"1330230975"},{"source":"MONDO","code":"0018939","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0457133","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"156","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10089751","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":371235,"name":"Congenital disorder of glycosylation with developmental anomaly","classifications":[147,156]},{"orpha":371071,"name":"Congenital disorder of glycosylation with epilepsy as a major feature","classifications":[156,181]},{"orpha":352687,"name":"Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies","classifications":[147,156,181]},{"orpha":309469,"name":"Disorder of O-mannosylglycan synthesis","classifications":[150,156]},{"orpha":98644,"name":"Metabolic disease with cataract","classifications":[156,189]},{"orpha":207119,"name":"Qualitative or quantitative defects of FKRP","classifications":[156]},{"orpha":207122,"name":"Qualitative or quantitative defects of fukutin","classifications":[156]},{"orpha":209024,"name":"Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase","classifications":[156]},{"orpha":209033,"name":"Qualitative or quantitative defects of protein O-mannosyltransferase 2","classifications":[156]},{"orpha":98638,"name":"Rare disease with glaucoma as a major feature","classifications":[156,189]},{"orpha":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"children":[],"genes":[{"symbol":"LARGE1","name":"LARGE xylosyl- and glucuronyltransferase 1","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"19067344[PMID]","hgnc":"6511","ensembl":"ENSG00000133424","omim":"603590","loci":["22q12.3"]},{"symbol":"B3GALNT2","name":"beta-1,3-N-acetylgalactosaminyltransferase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23453667[PMID]","hgnc":"28596","ensembl":"ENSG00000162885","omim":"610194","loci":["1q42.3"]},{"symbol":"POMGNT1","name":"protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"12788071[PMID]","hgnc":"19139","ensembl":"ENSG00000085998","omim":"606822","loci":["1p34.1"]},{"symbol":"CRPPA","name":"CDP-L-ribitol pyrophosphorylase A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"35863218[PMID]_33816389[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":"15121789[PMID]_19299310[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":"17878207[PMID]","hgnc":"3622","ensembl":"ENSG00000106692","omim":"607440","loci":["9q31.2"]},{"symbol":"GMPPB","name":"GDP-mannose pyrophosphorylase B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23768512[PMID]","hgnc":"22932","ensembl":"ENSG00000173540","omim":"615320","loci":["3p21.31"]},{"symbol":"POMT1","name":"protein O-mannosyltransferase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19299310[PMID]_17878207[PMID]","hgnc":"9202","ensembl":"ENSG00000130714","omim":"607423","loci":["9q34.13"]},{"symbol":"POMT2","name":"protein O-mannosyltransferase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19299310[PMID]_17878207[PMID]","hgnc":"19743","ensembl":"ENSG00000009830","omim":"607439","loci":["14q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","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:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001608","label":"Abnormality of the voice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007360","label":"Aplasia/Hypoplasia of the cerebellum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004374","label":"Hemiplegia/hemiparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001360","label":"Holoprosencephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002435","label":"Meningocele","frequency":"Occasional (29-5%)","criteria":null}]}}