In humans, multiple genes have been implicated in muscular dystrophy; in addition, in most cases, any specific gene is implicated in multiple forms of the disease. This report is for muscular dystrophy-dystroglycanopathy (MDDG), a form of muscular dystrophy that causes muscle weakness and wasting beginning at birth or in early infancy. A list of MDDG subtypes, as defined by OMIM, can be found by following the links in the "OMIM phenotypic series" section, below. A subset of these can be found in the table below, with links to more detailed reports for subtypes that have been investigated using fly models.
[updated Mar. 2016 by FlyBase; FBrf0222196]
Congenital muscular dystrophy-dystroglycanopathies with or without mental retardation (type B) represent the intermediate range of the spectrum of dystroglycanopathies. They are less severe than muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) and more severe than limb-girdle muscular dystrophy-dystroglycanopathy (type C). [from MIM:613155; 2016.03.14]
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1), collectively known as 'dystroglycanopathies'. It is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, and congenital muscular dystrophy. The phenotype includes the alternative clinical designation Walker-Warburg syndrome (WWS), which is associated with death in infancy. (Summary by Geis et al., 2013; pubmed:24052401 and Riemersma et al., 2015; pubmed:25934851). [from MIM:616538; 2016.03.14]
