{"orpha":352687,"name":"Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["Lissencephaly type 2 with muscular and ocular involvement","MDDGA"],"definition":"Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies (MDDGA) is a cobblestone lissencephaly characterized by and considered to be pathognomonic of a continuum of recessive autosomal disorders with brain, ocular and muscular involvement. MDDGA includes Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama muscular and cerebral dystrophy and muscle eye brain disease with bilateral multicystic leukodystrophy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-352687/","orphanet_url":"https://www.orpha.net/en/disease/detail/352687","names":{"fr":{"name":"Alpha-dystroglycanopathie musculaire congénitale avec atteinte cérébrale et oculaire","synonyms":["Lissencéphalie type 2 avec atteinte musculaire et oculaire","MDDGA"],"definition":"Lissencéphalie pavimenteuse considérée comme pathognomonique d'un continuum de troubles autosomiques récessifs caractérisée par une atteinte cérébrale, oculaire et musculaire. La maladie comprend le syndrome de Walker-Warburg, le syndrome muscle-oeil-cerveau, la dystrophie musculaire et cérébrale de Fukuyama et le syndrome muscle-oeil-cerveau avec leucodystrophie multikystique bilatérale."},"de":{"name":"Kongenitale muskuläre alpha-Dystroglykanopathie mit Gehirn- und Augenanomalien","synonyms":["Lissenzephalie Typ 2 mit Gehirn- und Augenanomalien","MDDGA"],"definition":"Die kongenitale muskuläre Alpha-Dystroglykanopathie mit Gehirn- und Augenanomalien (MDDGA) ist eine Pflasterstein-Lissenzephalie, die durch ein Kontinuum autosomal-rezessiver Erkrankungen mit Gehirn-, Augen- und Muskelbeteiligung charakterisiert sind, deren Befunde pathognomonisch sind. MDDGA umfasst das Walker-Warburg-Syndrom, die Muskel-Auge-Gehirn-Krankheit, das Fukuyama-Syndrom und das Muscle-Eye-Brain-Syndrom mit bilateraler multizystischer Leukodystrophie."},"es":{"name":"Alfa-distroglicanopatía muscular congénita con anomalías cerebrales y oculares","synonyms":["Lisencefalia tipo 2 con afectación muscular y ocular","MDDGA"],"definition":"La alfa-distroglicanopatía muscular congénita con anomalías cerebrales y oculares (MDDGA) es una lisencefalia ''en empedrado'' caracterizada y considerada patognomónica de un espectro de trastornos autosómicos recesivos con afectación cerebral, ocular y muscular. La MDDGA incluye el síndrome de Walker-Warburg, la enfermedad de músculo-ojo-cerebro, la distrofia muscular y cerebral de Fukuyama y la enfermedad de músculo-ojo-cerebro con leucodistrofia multiquística bilateral."},"it":{"name":"Alfadestroglicanopatia muscolare congenita con anomalie cerebrali e oculari","synonyms":["Lissencefalia tipo 2 con coinvolgimento oculare e muscolare","MDDGA"],"definition":"L'alfadestroglicanopatia muscolare congenita con anomalie cerebrali e oculari (MDDGA) è una lissencefalia con aspetto acciottolato, considerata patognomonica di un continuum di malattie autosomiche recessive caratterizzate da un interessamento cerebrale, oculare e muscolare. La MDDGA comprende la sindrome di Walker-Warburg, la malattia muscolo-occhio-cervello, la distrofia muscolare e cerebrale di Fukuyama e la malattia muscolo-occhio-cervello con leucodistrofia multicistica bilaterale."},"nl":{"name":"Congenitale musculaire alfa-dystroglycanopathie met hersen- en ooganomalieën","synonyms":["Lissencefalie type 2 met betrokkenheid van spier en oog","Lissencefalie type 2 met musculaire en oculaire betrokkenheid","MDDGA"],"definition":"Een 'cobblestone'-lissencefalie, gekenmerkt door en beschouwd als zijnde pathognomonisch voor een continuüm van autosomaal recessieve aandoeningen met betrokkenheid van hersenen, oog en spier. Deze entiteit omvat syndroom van Walker-Warburg, spier-oog-hersenziekte, musculaire en cerebrale dystrofie, Fukuyama-type, en spier-oog-hersenziekte met bilaterale multicystische leukodystrofie."},"pt":{"name":"Alfa-distroglicanopatia muscular congénita com anomalias cerebrais e oculares"},"pl":{"name":"Wrodzona alfa-dystroglikanopatia z anomaliami mózgu i oka","synonyms":["Lizencefalia typu 2 z zaangażowaniem mięśni i oczu","MDDGA"]},"cs":{"name":"Vrozená svalová alfa-dystroglykanopatie s anomáliemi mozku a oka","synonyms":["MDDGA","Lissencefalie typ 2 s postižením svalů a oka"]},"uk":{"name":"Вроджена мязова альфа-дистрогліанопатія з аномаліями головного мозку та очей","synonyms":["Лісенцефалія 2 типу з мязовим та очним ураженням","MDDGA"],"definition":"Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies (MDDGA) is a cobblestone lissencephaly characterized by and considered to be pathognomonic of a continuum of recessive autosomal disorders with brain, ocular and muscular involvement. MDDGA includes Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama muscular and cerebral dystrophy and muscle eye brain disease with bilateral multicystic leukodystrophy."},"zh":{"name":"先天性肌源性α-糖代谢不良症伴脑和眼畸形","synonyms":["无脑回畸形2型伴肌肉和眼受累"],"definition":"先天性肌肉α-糖营养不良症合并脑和眼异常(MDDGA)是一种鹅卵石般无脑畸形，其特征及病因为一系列及脑、眼和肌肉的常染色体隐性疾病。MDDGA包括Walker-Warburg综合征、肌-眼-脑疾病、福山型肌营养不良和脑发育不良以及肌眼脑疾病合并双侧多囊白质营养不良。"},"tr":{"name":"Beyin ve göz anomalileri ile seyreden olan doğumsal musküler alfa-distroglikanopati","synonyms":["MDDGA","Kas ve oküler tutulumu ile seyreden lissensefali tip 2"]}},"xrefs":[{"source":"MONDO","code":"18132","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679924","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":352694,"name":"OBSOLETE: Cobblestone lissencephaly type A","status":"inactive"},{"type":"Referred to","orpha":352699,"name":"OBSOLETE: Cobblestone lissencephaly type C","status":"inactive"},{"type":"Referred to","orpha":352704,"name":"OBSOLETE: Cobblestone lissencephaly type B","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":51577,"name":"Cobblestone lissencephaly","classifications":[147,156,181]},{"orpha":370953,"name":"Congenital muscular dystrophy due to dystroglycanopathy","classifications":[156,181]}],"children":[{"orpha":272,"name":"Congenital muscular dystrophy, Fukuyama type","type":"Malformation syndrome"},{"orpha":588,"name":"Muscle-eye-brain disease","type":"Malformation syndrome"},{"orpha":370997,"name":"Muscle-eye-brain disease with bilateral multicystic leucodystrophy","type":"Disease"},{"orpha":899,"name":"Walker-Warburg syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}