About: Muscle–eye–brain disease

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Muscle–eye–brain (MEB) disease, also known as muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3), is a kind of rare congenital muscular dystrophy (CMD), largely characterized by hypotonia at birth. Patients have muscular dystrophy, central nervous system abnormalities and ocular abnormalities. The condition is degenerative.

Attributes	Values
rdf:type	Thing Disease disease
rdfs:label	Muskel-Auge-Gehirn-Krankheit (de) Syndrome Muscle-Eye-Brain (fr) Muscle–eye–brain disease (en)
rdfs:comment	Die Muskel-Auge-Gehirn-Krankheit vom Englischen Muscle-Eye-Brain-Disease (teilweise auch im Deutschen so genannt), kurz MEB Disease oder MEBD oder auch nach der Erstbeschreibung 1977 durch die finnische Neuropädiaterin Pirkko Santavuori Santavuori-Krankheit ist eine kongenitale Muskeldystrophie – eine seltene, angeborene Krankheit der Muskulatur. Sie ist eng mit dem Walker-Warburg-Syndrom verwandt, verläuft im Allgemeinen jedoch etwas milder. Der Erbgang ist autosomal-rezessiv. (de) Le syndrome MEB, acronyme de l'anglais : Muscle Eyes Brain, est l’association d’une lissencéphalie pavimenteuse, d’une dystrophie musculaire congénitale et d’une anomalie oculaire importante. Cette dystrophie musculaire congénitale est caractérisée par un taux de CK qui s’élève à partir de l’âge d'un an. La lissencéphalie est souvent associée à une hydrocéphalie Le retard mental est constant et sévère. Les anomalies oculaires sont importantes : myopie congénitale, cataracte, glaucome, nystagmus. (fr) Muscle–eye–brain (MEB) disease, also known as muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3), is a kind of rare congenital muscular dystrophy (CMD), largely characterized by hypotonia at birth. Patients have muscular dystrophy, central nervous system abnormalities and ocular abnormalities. The condition is degenerative. (en)
foaf:name	Muscle–eye–brain disease (en)
name	Muscle–eye–brain disease (en)
foaf:depiction
dcterms:subject	Congenital disorders
Wikipage page ID	60041382 (xsd:integer)
Wikipage revision ID	1108482456 (xsd:integer)
Link from a Wikipage to another Wikipage	Cataract Electroencephalography Electromyography Epilepsy Megalocornea Aplasia Hydrocephalus Hyporeflexia Inheritance Nystagmus Muscle biopsy Congenital muscular dystrophy Contracture Lissencephaly Magnetic resonance imaging Strabismus Fukuyama congenital muscular dystrophy Fundus (eye) Pons CT scan Cerebellum Glaucoma Congenital disorders Hypoplasia Hypotonia Holoprosencephaly Buphthalmos Spasticity Mesencephalon Myopia Autosomal recessive disorder Seizures Medulla oblongata Spina bifida Western blot Neurology Walker–Warburg syndrome Ventriculomegaly Myopathy Pachygyria
sameAs	Muscle–eye–brain disease Muscle–eye–brain disease Muscle–eye–brain disease Muscle–eye–brain disease
dbp:wikiPageUsesTemplate	dbt:Better_source_needed dbt:Citation_needed dbt:Infobox_medical_condition_(new)
thumbnail	wiki-commons:Special:FilePath/Autosomal_recessive_-_en.svg?width=300
onset	Birth or infancy (en)
caption	Muscle–eye–brain disease has an autosomal recessive inheritance. (en)
date	August 2019 (en)
field	Neurology
reason	URL redirects to site's homepage. Archive.org doesn't have a copy either. (en)
synonyms	Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (en)
has abstract	Die Muskel-Auge-Gehirn-Krankheit vom Englischen Muscle-Eye-Brain-Disease (teilweise auch im Deutschen so genannt), kurz MEB Disease oder MEBD oder auch nach der Erstbeschreibung 1977 durch die finnische Neuropädiaterin Pirkko Santavuori Santavuori-Krankheit ist eine kongenitale Muskeldystrophie – eine seltene, angeborene Krankheit der Muskulatur. Sie ist eng mit dem Walker-Warburg-Syndrom verwandt, verläuft im Allgemeinen jedoch etwas milder. Der Erbgang ist autosomal-rezessiv. (de) Le syndrome MEB, acronyme de l'anglais : Muscle Eyes Brain, est l’association d’une lissencéphalie pavimenteuse, d’une dystrophie musculaire congénitale et d’une anomalie oculaire importante. Cette dystrophie musculaire congénitale est caractérisée par un taux de CK qui s’élève à partir de l’âge d'un an. La lissencéphalie est souvent associée à une hydrocéphalie Le retard mental est constant et sévère. Les anomalies oculaires sont importantes : myopie congénitale, cataracte, glaucome, nystagmus. (fr) Muscle–eye–brain (MEB) disease, also known as muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3), is a kind of rare congenital muscular dystrophy (CMD), largely characterized by hypotonia at birth. Patients have muscular dystrophy, central nervous system abnormalities and ocular abnormalities. The condition is degenerative. MEB is caused by mutations in the POMGnT1 gene, it is congenital and inherited as an autosomal recessive disorder. There is no cure for MEB. Supportive care mainly focuses on symptoms alleviation which varies in different clinical settings. Symptomatic treatment may include physiological therapies, occupational therapies, medications, and surgeries. The life expectancy of patients with MEB is over 70 years old. (en)
prov:wasDerivedFrom	wikipedia-en:Muscle–eye–brain_disease?oldid=1108482456&ns=0
page length (characters) of wiki page	33143 (xsd:nonNegativeInteger)
foaf:isPrimaryTopicOf	wikipedia-en:Muscle–eye–brain_disease
is Link from a Wikipage to another Wikipage of	Congenital muscular dystrophy Syndromic microphthalmia Muscle-eye-brain disease Muscle-eye-brain syndrome Muscle–eye–brain syndrome
is Wikipage redirect of	Muscle-eye-brain disease Muscle-eye-brain syndrome Muscle–eye–brain syndrome
is foaf:primaryTopic of	wikipedia-en:Muscle–eye–brain_disease

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