What is Walker-Warburg syndrome?
Walker-Warburg syndrome falls under a group of conditions called congenital muscular dystrophies. It is the most severe disease in this group. It affects the development of the brain, muscles, and eyes.
Throughout the world, one of every 60,500 babies are born with this condition.
What are the symptoms of Walker-Warburg syndrome?
The symptoms of this condition are usually present during infancy, and they are very severe. Babies are born with weak muscle tone in the skeletal muscles, making it difficult for them to move. This weakness progresses over time.
The brain and eyes are also affected in those with Walker-Walburg syndrome. The brain has a bumpy appearance rather than its normal grooves and folds. There may also be an accumulation of fluid, abnormalities in the cerebellum and brainstem, intellectual disabilities, and seizures. In terms of the eyes, people may have small eyeballs, enlarged eyeballs, cataracts, and issues with the optic nerve. All of these symptoms lead to visual impairment.
Unfortunately, these symptoms are very severe and are typically fatal around age three.
What causes Walker-Warburg syndrome?
Multiple genes can be responsible for Walker-Warburg syndrome, including the POMT1, POMT2, CRPPA, FKTN, FKRP, and LARGE1 genes. All of the genes that have been connected to this condition stop a protein called alpha-dystroglycan from functioning properly. This protein is necessary for the framework of cells, the movement of nerve cells, and the protection of muscle cells. When these genes are mutated, muscle fibers become damaged and stop functioning over time.
These genes are inherited in autosomal recessive patterns, meaning both parents must pass them down for a child to be affected.
How is Walker-Warburg syndrome diagnosed?
This condition is often diagnosed during pregnancy or very early in life. An ultrasound or fetal MRI helps doctors obtain a diagnosis, which is confirmed after birth.
Tests used to confirm a diagnosis include MRIs, CT scans, ultrasound, biopsies, and blood tests. Genetic testing is also used, but as there may be other genes associated with this condition, it does not always result in the correct diagnosis.
What are the treatments for Walker-Warburg syndrome?
There is no cure for this condition; treatment is symptomatic. Treatment consists of anti-seizure medication, surgery, physical therapy, and a gastric tube for feeding.