From the Research
Walker-Warburg syndrome is a severe congenital muscular dystrophy characterized by brain and eye abnormalities, with no cure available, and treatment focusing on managing symptoms through supportive care, as evident from the most recent study in 2021 1. The condition presents at birth with symptoms including muscle weakness, developmental delays, seizures, hydrocephalus, eye abnormalities (such as cataracts and retinal malformations), and brain malformations (including lissencephaly and cerebellar abnormalities). Some key features of Walker-Warburg syndrome include:
- Elevated creatine kinase levels
- Macrocephaly or intrauterine growth restriction
- Dysmorphic features
- Cobblestone cortex and classical infratentorial findings on neuroimaging
- Hydrocephalus and other cerebral cortical malformations
- Buphthalmos and microphthalmia as prevalent orbital findings The prognosis is generally poor, with most affected children not surviving beyond early childhood due to complications like respiratory failure or infections, as reported in earlier studies 2, 3. The condition is inherited in an autosomal recessive pattern, meaning both parents must carry a mutation for a child to be affected, and genetic counseling is recommended for families with a history of the condition, as highlighted in a study from 2012 4. Recent studies have identified several genes implicated in the etiology of Walker-Warburg syndrome, including POMT1, POMT2, ISPD, and TMEM5, with the most recent study in 2021 1 providing further insight into the genetic heterogeneity of the condition.