Walker Warburg Syndrome is a rare congenital muscular dystrophy disease. This disorder has been seen throughout the entire world. Most children will die before they reach the age of three. Walker Warburg syndrome affects multiple different body systems, which produces a range of symptoms. This disorder falls under a group of disorders that are cause a decrease in the mass of the muscles in the body. This disorder is an autosomal recessive disorder, which means that both of the parents have to carry and pass the gene to their child.
The symptoms of Walker Warburg syndrome vary from person to person. Some of the commonly experienced symptoms are muscle weakness, low muscle tone, developmental delay, seizures, and mental retardation. Walker Warburg syndrome may cause a child to have bad reflexes. Hydrocephalus is another symptom that is associated with Walker Warburg syndrome. Hydrocephalus occurs when there is water in the brain and can cause abnormalities in the brain. Eye problems are commonly reported, such as cataracts, glaucoma, small eyes, and abnormal retinas. Lissencephaly is also commonly seen, which is the lack of folds in the brain, this gives the brain a smoothed out look.
Some of the symptoms of Walker Warburg syndrome may appear in ultrasounds while the baby is in the womb. The doctors will make a diagnosis of this condition by viewing the child’s physical features and symptoms. They may order an MRI to be done to view the brain and any abnormalities.
Walker Warburg syndrome is caused by a mutation of a gene. This gene can be inherited from one parents but not the other, which will not produce this disorder or any symptoms. If both parents carry the gene and it gets passed to their child, the child will show symptoms and develop the disease.
Walker-Warburg syndrome is diagnosed by viewing the family’s history for any known mutations. Unfortunately, there are not any known treatments for Walker Warburg syndrome. Since there is not a cure for this disease, the prognosis is bad and will lead to death. Since seizures are common in children with Walker Warburg syndrome, the doctor may prescribe an anti seizure medication. You should provide the child with plenty of loving care. There are support groups and counseling available for families that have or had a child that was diagnosed with this disease. This is recommended for families that are going or went through a child having Walker Warburg syndrome.