Walker-Warburg Syndrome is a severe form of congenital muscular dystrophy that affects newborns. The condition targets your child’s muscles, brain and eyes, with symptoms that get worse over time. There's no cure for Walker-Warburg Syndrome but treatment prolongs your child’s life expectancy.
Walker-Warburg syndrome is a genetic condition that affects the muscles in your child’s body, including their brain and their eyes. This condition is a type of congenital muscular dystrophy present at birth or infancy that leads to progressive muscle weakness over time. This condition causes life-threatening symptoms for children and a shortened life expectancy.
You might hear Walker-Warburg syndrome identified as dystroglycanopathy. Walker-Warburg syndrome is a form of congenital (appears at birth) muscular dystrophy, which is a group of conditions that target the muscles of your child’s body. There are several types of muscular dystrophy categorized as dystroglycanopathy, which identifies forms of muscular dystrophy caused by genes that produce the dystroglycan protein. Walker-Warburg syndrome is the most severe type of dystroglycanopathy.
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Walker-Warburg syndrome affects a worldwide estimate of 1 in every 60,500 newborns. This condition can affect anyone since it’s the result of a genetic mutation.
Yes, your child can inherit Walker-Warburg syndrome. The condition passes from both parents to a child during conception when both parents are carriers of one of the mutated genes that cause Walker-Warburg syndrome. When both parents pass the gene onto their child, the condition is autosomal recessive. If your child only receives one copy of the mutated gene from one parent, your child won’t experience symptoms but will be a carrier of the condition.
Walker-Warburg syndrome affects the muscles in your child’s body. You’ll notice symptoms that affect your child’s muscles when they’re born because they’ll appear “floppy” since their muscle tone is weak. Beyond their muscles, this condition can affect how your child’s brain and eyes form and function. Your child might have a visual impairment, developmental delays and problems with cognitive development. Treatment focuses on managing these symptoms to prevent a shortened life expectancy.
Walker-Warburg syndrome causes symptoms that affect your child’s muscles, brain and eyes. Symptoms range in severity and are usually present at birth or early infancy. Symptoms can be life-threatening.
Symptoms of Walker-Warburg syndrome affect the muscles that your child uses for movement. When your baby is born, they might appear “floppy” like a rag doll because of their weak muscle tone (hypotonia). Babies with hypotonia have trouble lifting their head, arms and legs. The condition weakens your child’s muscles progressively, which means their symptoms will worsen over time.
Since your baby’s muscles don’t work as they should, they could have trouble feeding during early infancy.
Walker-Warburg syndrome affects how your child’s brain develops. Symptoms that affect your child’s brain could include:
Symptoms that affect your child's brain can lead to delayed development and challenges with intellectual abilities.
Walker-Warburg syndrome can affect the development of your child’s eyes and cause symptoms including:
A genetic mutation causes Walker-Warburg syndrome. There are more than a dozen genes that cause the condition and many more which haven’t been identified yet. Genetic mutations that cause more than half of all Walker-Warburg syndrome cases include:
The genes that cause Walker-Warburg syndrome disrupt glycosolation of α-dystroglycan. Without this glycosolation process, your child’s muscle fibers can’t maintain their structure within their body. These proteins also affect nerve cell movement in their brain during fetal development, leading to lissencephaly.
If your child is diagnosed with Walker-Warburg syndrome, their muscles contract (tighten) and relax (loosen) too often. Over time, their muscle fibers become too damaged to function by making them weak.
In addition, Walker-Warburg syndrome disrupts the traffic of the neurons in their brain. When neurons reach their destination, they’re supposed to stop. Instead, neurons affected by Walker-Warburg syndrome keep moving into the fluid that surrounds your child's brain.
Your healthcare provider will begin the diagnosis of Walker-Warburg syndrome during the late stages of pregnancy and confirm the diagnosis once your child is born. An ultrasound can detect symptoms during pregnancy, especially symptoms that affect your child's brain. Imaging tests (radiology), like a CT scan and an MRI, are also helpful to get a clear image of your child’s brain once they’re born.
Several tests confirm a diagnosis of Walker-Warburg syndrome, including:
Since there's no cure for Walker-Warburg syndrome, treatment focuses on alleviating symptoms. Treatment is unique to each child diagnosed with the condition and could include:
Treatment for Walker-Warburg syndrome aims to prevent life-threatening symptoms to improve your child’s life expectancy.
Since Walker-Warburg syndrome is a genetic condition, there's no way to prevent it. If you plan on becoming pregnant and want to understand your risk of having a child with a genetic condition, talk to your healthcare provider about genetic testing or genetic counseling.
Walker-Warburg syndrome is a progressive condition that causes symptoms to start mild but get worse over time. This means that babies diagnosed with this condition have a short life expectancy into early childhood. Your child’s healthcare provider will offer treatment to prevent life-threatening symptoms and prolong your child’s life. There is no cure for Walker-Warburg syndrome.
During your child’s diagnosis, it’s important to take care of yourself too. It might be beneficial to talk to a genetic counselor to help you and your family navigate your child’s diagnosis and treatment options. A mental health professional can help you prepare and adapt to the sudden loss of your child due to their diagnosis. Bereavement and support groups provide comfort to families during a difficult loss.
Contact your child's healthcare provider if your child experiences symptoms of Walker-Warburg syndrome, especially if they’re unable to eat. Also contact them if your child has success with treatment to alleviate symptoms but their symptoms unexpectedly reappear or get worse.
Your child is at risk of having seizures. If you notice your child loses consciousness temporarily, shakes or moves uncontrollably, or appears confused, frightened or anxious, visit the emergency room.
A note from Cleveland Clinic
It can be devastating to learn that your newborn has a congenital condition that can prevent them from living a full life. During this challenging diagnosis, your healthcare provider will offer treatment to prevent life-threatening symptoms and to prolong your child’s life expectancy. Your child’s diagnosis will likely take a toll on you and your family, so make sure you find the care you need. Many people find genetic counseling beneficial to learn more about how they can care for their child. A mental health specialist can help you navigate stress, prepare and cope after an unexpected loss. Surround yourself with support, and talk with your provider if you need help.
Last reviewed by a Cleveland Clinic medical professional on 08/17/2022.
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Cleveland Clinic is a non-profit academic medical center. Advertising on our site helps support our mission. We do not endorse non-Cleveland Clinic products or services. Policy