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Central nervous system: Paediatric and neurodevelopmental disorders
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
This group contains various disorders affecting cerebral gyral development, including microdeletions of chromosome 17p (Miller-Dieker syndrome), classical ‘type 1’ lissencephaly involving specific genes in the same 17p region, and an important X-linked type, with female ‘carriers’ of mutations in the filamin A gene often showing subcortical band heterotopia and some having mild intellectual problems and epilepsy. It is important to base a specific diagnosis on a combination of neuroradiological, molecular and clinical criteria. The Walker-Warburg syndrome and the related muscle-eye-brain disease include lissencephaly and cerebellar hypoplasia along with a congenital muscular dystrophy and eye anomalies.
Neurology
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Fenella Kirkham, Adnan Manzur, Stephanie Robb
Neuroimaging of brain to exclude structural brain abnormality, either isolated or in association with muscle disease (e.g. Walker Warburg congenital muscular dystrophy, muscle–eye–brain disease) and of spine to exclude birth trauma (Fig. 8.52).
B4GAT1 Gene Associated Congenital Muscular Dystrophy Presenting with Recurrent Severe Ventriculomegaly: Case Report and Review of Literature
Published in Fetal and Pediatric Pathology, 2022
Meenakshi Lallar, Ladbans Kaur, Meetan Preet, U. P. Singh
Alpha dystroglycanopathies (aDG) are a group of muscular dystrophies with deficient glycosylation of alpha-dystroglycan (α-DG).To date, 18 genes have been associated with alpha dystroglycanopathy. The phenotypes associated with these genes range in presentation and severity. At the most severe end of the spectrum are the severe congenital muscular dystrophies (CMD) with brain and eye abnormalities (includes Walker-Warburg syndrome, muscle-eye-brain disease, and Fukuyama CMD). The intermediate severity examples are CMD with or without intellectual disability and the milder phenotypes present as limb-girdle muscular dystrophy [2]. To date, there is no clear genotype-phenotype correlation. One recently discovered α-DG gene is B4GAT1 (previously called B3GNT1) where only two families with varying phenotypes have been reported to date [3–5].
Fetal Presentation of Walker-Warburg Syndrome with Compound Heterozygous POMT2 Missense Mutations
Published in Fetal and Pediatric Pathology, 2023
Silvia Zago, Evelina Silvestri, Tiziana Arcangeli, Marina Calisesi, Chiara Romeo, Giulia Parmeggiani, Elena Parrini, Valentina Cetica, Renzo Guerrini, Andrea Palicelli, Maria Paola Bonasoni
Clinical phenotypes of DGPs range from severe to mild entities. The most severe phenotype includes muscular dystrophy with dystroglycanopathy type A (MDDG type A), in which congenital muscular dystrophy (CMD) is associated with brain and eye abnormalities, including Walker-Warburg syndrome (WWS), muscle-eye-brain disease (MEB), and Fukuyama CMD (FCMD). The intermediate type, also defined as muscular dystrophy with dystroglycanopathy type B (MDDG type B), includes CMD with or without intellectual disability. The milder type, muscular dystrophy with dystroglycanopathy type C (MDDG type C), is limb-girdle muscular dystrophy (LGMD). No well-known genotype-phenotype correlation has been clearly defined [4].
Ophthalmological Manifestations of Hereditary Myopathies
Published in Journal of Binocular Vision and Ocular Motility, 2022
Marta Saint-Gerons, Miguel Angel Rubio, Gemma Aznar, Ana Matheu
Walker–Walburg syndrome, Fukuyama congenital muscular dystrophy and muscle-eye-brain disease are the most severe forms of dystroglycanopathies.86 Dystroglycan is involved in the development and maintenance of basal membranes in muscle and non-muscle tissues. CMD is characterized by a combination of progressive muscular dystrophy and central nervous system malformations.