Editor-In-Chief: C. Michael Gibson, M.S., M.D.  Associate Editor(s)-in-Chief: Kalsang Dolma, M.B.B.S.
Synonyms and keywords: Hydrocephalus, agyria and retinal dysplasia, Hard syndrome, Hard +/- E syndrome, Warburg syndrome, Chemke syndrome, Pagon syndrome, Cerebroocular dysgenesis, Cerebroocular dysplasia muscular dystrophy syndrome, COD-MD syndrome
Walker-Warburg syndrome is a rare form of autosomal recessive congenital muscular dystrophy associated with brain (lissencephaly, hydrocephalus, cerebellar malformations) and eye abnormalities. It is the most severe form of congenital muscular dystrophy with most children dying before the age of three years.
Epidemiology and Demographics
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.
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 the fukutin and fukutin-related protein genes. It is inherited in an autosomal recessive manner.
- Developmental delay with mental retardation
- Seizures ocassionaly
- Generalized hypotonia at birth
- Muscle weakness
- Elevated creatine kinase
- Myopathic/dystrophic muscle pathology and altered α-dystroglycan.
May be helpful for diagnosis in families where the molecular defect is unknown.
No specific treatment is available. Management is only supportive and preventive.
- Vajsar J, Schachter H (2006). "Walker-Warburg syndrome". Orphanet journal of rare diseases. 1: 29. doi:10.1186/1750-1172-1-29. PMID 16887026.free fulltext PDF