Walker-Warburg syndrome
| Walker-Warburg syndrome | |
| OMIM | 236670 |
|---|---|
| DiseasesDB | 29495 |
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
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