Walker-Warburg syndrome

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Kalsang Dolma, M.B.B.S.[2]

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

Overview

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.

Pathophysiology

Genetics

Walker-Warburg syndrome is inherited in an autosomal recessivepattern.

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.

Diagnosis

Symptoms

Developmental delay with mental retardation
Seizures ocassionaly

Physical Examination

Neurologic

Generalized hypotonia at birth
Muscle weakness

Laboratory Findings

Elevated creatine kinase
Myopathic/dystrophic muscle pathology and altered α-dystroglycan.

Prenatal Ultrasound

May be helpful for diagnosis in families where the molecular defect is unknown.

Treatment

No specific treatment is available. Management is only supportive and preventive.

References

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

fi:Walker-Warburgin oireyhtymä

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