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Walker-Warburg syndrome
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 per 100,000 live...
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Formato: | Texto |
Lenguaje: | English |
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BioMed Central
2006
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1553431/ https://www.ncbi.nlm.nih.gov/pubmed/16887026 http://dx.doi.org/10.1186/1750-1172-1-29 |
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author | Vajsar, Jiri Schachter, Harry |
author_facet | Vajsar, Jiri Schachter, Harry |
author_sort | Vajsar, Jiri |
collection | PubMed |
description | 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 per 100,000 live births. It is the most severe form of congenital muscular dystrophy with most children dying before the age of three years. WWS presents at birth with generalized hypotonia, muscle weakness, developmental delay with mental retardation and occasional seizures. It is associated with type II cobblestone lissencephaly, hydrocephalus, cerebellar malformations, eye abnormalities and congenital muscular dystrophy characterized by hypoglycosylation of α-dystroglycan. Several genes have been implicated in the etiology of WWS, and others are as yet unknown. Several mutations were found in the Protein O-Mannosyltransferase 1 and 2 (POMT1 and POMT2) genes, and one mutation was found in each of the fukutin and fukutin-related protein (FKRP) genes. Laboratory investigations usually show elevated creatine kinase, myopathic/dystrophic muscle pathology and altered α-dystroglycan. Antenatal diagnosis is possible in families with known mutations. Prenatal ultrasound may be helpful for diagnosis in families where the molecular defect is unknown. No specific treatment is available. Management is only supportive and preventive. |
format | Text |
id | pubmed-1553431 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2006 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-15534312006-08-25 Walker-Warburg syndrome Vajsar, Jiri Schachter, Harry Orphanet J Rare Dis Review 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 per 100,000 live births. It is the most severe form of congenital muscular dystrophy with most children dying before the age of three years. WWS presents at birth with generalized hypotonia, muscle weakness, developmental delay with mental retardation and occasional seizures. It is associated with type II cobblestone lissencephaly, hydrocephalus, cerebellar malformations, eye abnormalities and congenital muscular dystrophy characterized by hypoglycosylation of α-dystroglycan. Several genes have been implicated in the etiology of WWS, and others are as yet unknown. Several mutations were found in the Protein O-Mannosyltransferase 1 and 2 (POMT1 and POMT2) genes, and one mutation was found in each of the fukutin and fukutin-related protein (FKRP) genes. Laboratory investigations usually show elevated creatine kinase, myopathic/dystrophic muscle pathology and altered α-dystroglycan. Antenatal diagnosis is possible in families with known mutations. Prenatal ultrasound may be helpful for diagnosis in families where the molecular defect is unknown. No specific treatment is available. Management is only supportive and preventive. BioMed Central 2006-08-03 /pmc/articles/PMC1553431/ /pubmed/16887026 http://dx.doi.org/10.1186/1750-1172-1-29 Text en Copyright © 2006 Vajsar and Schachter; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( (http://creativecommons.org/licenses/by/2.0) ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Review Vajsar, Jiri Schachter, Harry Walker-Warburg syndrome |
title | Walker-Warburg syndrome |
title_full | Walker-Warburg syndrome |
title_fullStr | Walker-Warburg syndrome |
title_full_unstemmed | Walker-Warburg syndrome |
title_short | Walker-Warburg syndrome |
title_sort | walker-warburg syndrome |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1553431/ https://www.ncbi.nlm.nih.gov/pubmed/16887026 http://dx.doi.org/10.1186/1750-1172-1-29 |
work_keys_str_mv | AT vajsarjiri walkerwarburgsyndrome AT schachterharry walkerwarburgsyndrome |