Walker-Warburg syndrome

Common Name(s)

Walker-Warburg syndrome, Walker-Warburg congenital muscular dystrophy

Walker-Warburg syndrome (WWS) is a severe form of congenital muscular dystrophy associated with brain and eye abnormalities. Signs and symptoms are typically present at birth and include hypotonia, muscle weakness, developmental delay, intellectual disability and occasional seizures. It is also associated with lissencephaly, hydrocephalus, cerebellar malformations, eye abnormalities, and other abnormalities. Most children do not survive beyond the age of three years. It may be caused by mutations in any of several genes including the POMT1, POMT2 and FKRP genes, although in many individuals the genetic cause is unknown. WWS is inherited in an autosomal recessive manner. No specific treatment is available; management is generally supportive and preventive.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Walker-Warburg syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Walker-Warburg syndrome" returned 25 free, full-text research articles on human participants. First 3 results:

Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome.
 

Author(s): Karen Buysse, Moniek Riemersma, Gareth Powell, Jeroen van Reeuwijk, David Chitayat, Tony Roscioli, Erik-Jan Kamsteeg, Christa van den Elzen, Ellen van Beusekom, Susan Blaser, Riyana Babul-Hirji, William Halliday, Gavin J Wright, Derek L Stemple, Yung-Yao Lin, Dirk J Lefeber, Hans van Bokhoven

Journal: Hum. Mol. Genet.. 2013 May;22(9):1746-54.

 

Several known or putative glycosyltransferases are required for the synthesis of laminin-binding glycans on alpha-dystroglycan (αDG), including POMT1, POMT2, POMGnT1, LARGE, Fukutin, FKRP, ISPD and GTDC2. Mutations in these glycosyltransferase genes result in defective αDG glycosylation ...

Last Updated: 2 Apr 2013

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Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.
 

Author(s): M Chiara Manzini, Dimira E Tambunan, R Sean Hill, Tim W Yu, Thomas M Maynard, Erin L Heinzen, Kevin V Shianna, Christine R Stevens, Jennifer N Partlow, Brenda J Barry, Jacqueline Rodriguez, Vandana A Gupta, Abdel-Karim Al-Qudah, Wafaa M Eyaid, Jan M Friedman, Mustafa A Salih, Robin Clark, Isabella Moroni, Marina Mora, Alan H Beggs, Stacey B Gabriel, Christopher A Walsh

Journal: Am. J. Hum. Genet.. 2012 Sep;91(3):541-7.

 

Whole-exome sequencing (WES), which analyzes the coding sequence of most annotated genes in the human genome, is an ideal approach to studying fully penetrant autosomal-recessive diseases, and it has been very powerful in identifying disease-causing mutations even when enrollment ...

Last Updated: 10 Sep 2012

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Walker-Warburg syndrome: demonstration of cerebellar cysts with CISS sequence.
 

Author(s): Santosh Bharat Rathod, Akshay Dwarka Baheti, Poonam Tanaji Dabhade, Shilpa Susheel Sankhe

Journal: Magn Reson Med Sci. 2012 ;11(2):137-40.

 

Walker-Warburg syndrome (WWS) is a rare autosomal recessive disorder characterized by a triad of congenital muscular dystrophy, brain anomalies, and ocular abnormalities. The brain anomalies mainly include type II lissencephaly (cobblestone cortex), pontine and cerebellar hypogenesis, ...

Last Updated: 13 Jul 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Walker-Warburg syndrome" returned 2 free, full-text review articles on human participants. First 3 results:

Walker-Warburg syndrome.
 

Author(s): Jiri Vajsar, Harry Schachter

Journal:

 

Walker-Warburg Syndrome (WWS) is a rare form of autosomal recessive congenital muscular dystrophy associated with brain and eye abnormalities. WWS has a worldwide distribution. The overall incidence is unknown but a survey in North-eastern Italy has reported an incidence rate of 1.2 ...

Last Updated: 24 Aug 2006

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Walker-Warburg syndrome: case report and review of the literature.
 

Author(s): A Monteagudo, A Alayón, P Mayberry

Journal: J Ultrasound Med. 2001 Apr;20(4):419-26.

 

Last Updated: 23 Apr 2001

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Congenital Muscle Disease Study of Patient and Family Reported Medical Information
 

Status: Recruiting

Condition Summary: Muscular Dystrophy; Congenital Muscular Dystrophy; Fukutin-related Protein Gene; Limb Girdle; FKRP Gene; Childhood Onset LGMD; Adult Onset LGMD; POMT1; POMT2; POMGnT1; LARGE; Alpha Dystroglycan; Dystroglycanopathy; Centronuclear; Multiminicore; Multicore; Minicore; Congenital Fiber Type Disproportion; Myotubular; Nemaline; Congenital Myopathy; Neuromuscular; Rigid Spine; Phenotype-Genotype Correlation; Cough Assisted Device; Neuromuscular Disease; Respiratory Exacerbation; Invasive Ventilation; Chest Physiotherapy; Congenital Myopathies; Genetic Mutations; Hypertrophic Cardiomyopathy; Wheelchair Use; Cataract; Opthalmoplegia; Ullrich Congenital Muscular Dystrophy; Intermediate Collagen VI Myopathy; Laminin Alpha 2 Related Congenital Muscular Dystrophy; MDC1A; Merosin Deficient Congenital Muscular Dystrophy; Congenital Muscular Dystrophy Undiagnosed; Congenital Muscular Dystrophy Merosin Positive; Walker Warburg Syndrome; Muscle Eye Brain Disease; Fukuyama; Integrin Alpha 7 Deficiency; Integrin Alpha 9 Deficiency; Laminopathy; Lamin AC; SEPN 1 Related Myopathies; Bethlem Myopathy; Dystroglycanopathies; LGMD2K; LGMD2I; LGMD2L; LGMD2N; Actin Aggregation Myopathy; Cap Disease; Central Core Disease; Centronuclear Myopathy; Core Rod Myopathy; Hyaline Body Myopathy; Multiminicore Myopathy; Myotubular Myopathy; Nemaline Myopathy; Tubular Aggregate Myopathy; Zebra Body Disease Myopathy; Congenital Myopathy Other; Reducing Body Myopathy; Sarcotubular Myopathy; Spheroid Body Myopathy

 

Last Updated: 17 Jun 2014

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