Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7

Common Name(s)

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; {128239}), collectively known as 'dystroglycanopathies' (summary by {3:Roscioli et al., 2012}). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 ({236670}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7" for support, advocacy or research.

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Scientific Literature

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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