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Walker-Warburg syndrome

Other Names for this Disease
  • Cerebroocular dysgenesis
  • Cerebroocular dysplasia muscular dystrophy syndrome
  • Chemke syndrome
  • COD-MD syndrome
  • Hard +/- E syndrome
More Names
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What is Walker-Warburg syndrome?

How might Walker-Warburg syndrome be treated?

What is Walker-Warburg syndrome?

Walker-Warburg syndrome (WWS) is a severe form of congenital muscular dystrophy associated with brain and eye abnormalities. Signs and symptoms are typically present at birth and include hypotonia, muscle weakness, developmental delay, intellectual disability and occasional seizures. It is also associated with lissencephaly, hydrocephalus, cerebellar malformations, eye abnormalities, and other abnormalities. Most children do not survive beyond the age of three years. It may be caused by mutations in any of several genes including the POMT1, POMT2 and FKRP genes, although in many individuals the genetic cause is unknown. WWS is inherited in an autosomal recessive manner. No specific treatment is available; management is generally supportive and preventive.[1]
Last updated: 3/23/2011

How might Walker-Warburg syndrome be treated?

There is currently no cure or treatment for Walker-Warburg syndrome. Management is generally only supportive and preventive. Individuals who develop seizures are typically treated with anticonvulsants. A few children require surgical procedures, such as shunting for hydrocephalus or correction of encephalocele. Physical therapy can be offered to aid in development or prevent worsening of contractures; however, the benefit of this has not been established. Feeding usually needs to be monitored and in some cases, a supplemental nasogastric or gastric feeding tube may be necessary.[1]
Last updated: 3/23/2011

  1. Jiri Vajsar and Harry Schachter. Walker-Warburg syndrome. Orphanet Journal of Rare Diseases. August 3, 2006; 1(29): Accessed 3/22/2011.