- Walker-Warburg syndrome
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DiseasesDB = 29495
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OMIM = 236670
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MeshID =Walker-Warburg syndrome is a rare form of autosomal recessive
congenital muscular dystrophy associated with brain (lissencephaly ,hydrocephalus ,cerebellar malformations ) andeye abnormalities. This condition 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.Presentation
The clinical manifestations present at birth are generalized
hypotonia , muscle weakness, developmental delay withmental retardation and occasionalseizures . The congenital muscular dystrophy is characterized by hypoglycosylation of α-dystroglycan.Genetics
Several genes have been implicated in the etiology of Walker-Warburg syndrome, and others are as yet unknown. Several mutations were found in the protein
O-Mannosyltransferase 1 and 2 genes, and one mutation was found in each of thefukutin andfukutin-related protein genes.Diagnosis
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.Prognosis
No specific treatment is available. Management is only supportive and preventive.
References
* [http://www.ojrd.com/content/pdf/1750-1172-1-29.pdf free fulltext PDF]
External links
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*RareDiseases|2599|HARD syndrome; Walker-Warburg syndrome; Chemke syndrome; COD (cerebroocular dysgenesis)
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