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Walker-Warburg Syndrome

Rare autosomal recessive lissencephaly type 2 associated with congenital MUSCULAR DYSTROPHY and eye anomalies (e.g., RETINAL DETACHMENT; CATARACT; MICROPHTHALMOS). It is often associated with additional brain malformations such as HYDROCEPHALY and cerebellar hypoplasia and is the most severe form of the group of related syndromes (alpha-dystroglycanopathies) with common congenital abnormalities in the brain, eye and muscle development.
Also Known As:
Muscle-Eye-Brain Diseases; Syndrome, Chemke; Syndrome, Walker-Warburg; Syndrome, Warburg; Walker Warburg Syndrome; alpha Dystroglycanopathies; Cerebromuscular Dystrophy, Fukuyama Type; Chemke Syndrome; Fukuyama Congenital Muscular Dystrophy; Fukuyama Type Congenital Muscular Dystrophy; Muscle-Eye-Brain Disease; Muscular Dystrophy, Congenital, Fukuyama Type; Warburg Syndrome; alpha-Dystroglycanopathies
Networked: 210 relevant articles (0 outcomes, 12 trials/studies)

Disease Context: Research Results

Related Diseases

1. Muscular Dystrophies (Muscular Dystrophy)
2. Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)
3. Myotonic Dystrophy (Dystrophia Myotonica)
4. Sarcoglycanopathies
5. Facioscapulohumeral Muscular Dystrophy

Experts

1. Toda, Tatsushi: 19 articles (10/2015 - 03/2002)
2. Endo, Tamao: 16 articles (10/2013 - 03/2002)
3. Manya, Hiroshi: 12 articles (10/2013 - 03/2002)
4. Kobayashi, Kazuhiro: 8 articles (10/2015 - 03/2002)
5. Muntoni, Francesco: 8 articles (01/2013 - 11/2002)
6. Nishino, Ichizo: 8 articles (11/2006 - 03/2002)
7. Voit, Thomas: 7 articles (01/2013 - 03/2002)
8. Schachter, Harry: 7 articles (05/2012 - 12/2002)
9. Osawa, Makiko: 7 articles (07/2009 - 11/2002)
10. Kobayashi, Makio: 7 articles (10/2008 - 11/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Walker-Warburg Syndrome:
1. Dystroglycans (Dystroglycan)IBA
2. protein O-mannose beta-1,2-N-acetylglucosaminyltransferaseIBA
3. Mannose (D-Mannose)IBA
4. Laminin (Merosin)IBA
5. Miyoshi myopathyIBA
6. Sarcoglycans (beta Sarcoglycan)IBA
7. Messenger RNA (mRNA)IBA
8. Aquaporin 4IBA
9. Membrane Proteins (Integral Membrane Proteins)IBA
10. Monoclonal AntibodiesIBA

Therapies and Procedures

1. Anesthesia
2. Ventriculoperitoneal Shunt
3. Intermittent Positive-Pressure Ventilation
4. Gastrostomy
5. Intravenous Anesthesia