Walker-Warburg syndrome (WWS) is a very rare and severe congenital muscular dystrophy that affects the brain, eyes and muscles. WWS belongs to a group of conditions known as dystroglycanopathies. Signs and symptoms of the condition are typically present before birth or very shortly afterward. Typical features of WWS include a smooth, "cobblestone" appearance to the brain surface, muscle wasting, and eye abnormalities leading to vision loss. Unfortunately, there is no cure for WWS and there is no definitive treatment for this condition. Certain therapies, however, may improve the quality of life and prolong life expectancy for affected individuals. Nonetheless, regardless of the therapies undertaken, affected individuals typically pass away in early childhood, around the age of 3.
Walker-Warburg syndrome is also known as:
cerebroocular dysplasia-muscular dystrophy syndrome/COD-MD syndrome
hydrocephalus, agyria, and retinal dysplasia syndrome/HARD syndrome
muscle-eye-brain disease
muscular dystrophy-dystroglycanopathy [with brain and eye anomalies], type A/MDDGA
Walker-Warburg congenital muscular dystrophy
WWS
Walker-Warburg syndrome (WWS) is generally a very rare condition. In fact, the true frequency of the condition is unknown, but it is estimated to occur somewhere between 1 in 60,000 to 1 in 200,000 or fewer births.
WWS is slightly more common in individuals of Ashkenazi Jewish ancestry. About 1 in 120 individuals of Ashkenazi Jewish descent is a carrier for WWS. Although the carrier rate in this population is higher than in other populations, the incidence of WWS in Ashkenazi Jewish individuals is still only about 1 in 60,000.
The typical abbreviation for Walker-Warburg syndrome is WWS.
Frequently Asked Questions About Walker-Warburg syndrome
Who else in my family should I test for Walker-Warburg syndrome?
In the vast majority of cases when an individual is diagnosed with Walker-Warburg syndrome (WWS), there are no other affected family members. WWS is inherited in an autosomal recessive fashion. Parents are unaffected carriers of the condition. Although relatives of carriers are at risk to be carriers themselves, that relative’s partner would have to be a carrier of WWS as well in order for that second couple in the family to have a child with WWS. Because WWS is a very rare disorder and it is uncommon for people to be carriers of this condition, therefore, the odds of two separate couples in a family having offspring with WWS is very low.
When a couple has had a child with WWS, their future offspring are each at 25% risk for WWS. Therefore, a couple who has a child with WWS may desire testing for subsequent offspring either pre- or postnatally. Before testing subsequent offspring for WWS, it is recommended that the family meet with a genetic counselor or medical geneticist to review the information on the diagnosed family member, discuss the family history in general, and review testing options if appropriate. To find a medical geneticist near you, see the Find Genetic Services page on the American College of Medical Genetics’ website. The Find a Genetic Counselor tool on the National Society of Genetic Counselors website can help you to find a genetic counselor in your area.
Where do I find other people with Walker-Warburg syndrome?
Because Walker-Warburg syndrome is a relatively rare disease, finding other families who have children with this condition can be difficult. Thankfully, there are many support groups online that allow families to contact one another. Some such support groups are:
Where can caregivers of people with Walker-Warburg syndrome get support?
Taking care of someone with a long-term or chronic condition can be tiring and challenging and this is no different for parents or other caregivers of people with Walker-Warburg syndrome. If you are a caregiver in need of support, try to take time for yourself, set aside time for personal counseling, or look for other resources at the Caregiver Action Network. This organization works to improve the quality of life for people who care for loved ones with chronic conditions, disabilities, disease, or the frailties of old age. Support groups can also help provide support and advice for caregivers. Support groups for Walker-Warburg syndrome include:
Walker-Warburg Syndrome Facebook Page
Walker-Warburg Syndrome Yahoo! Page
Dystroglycanopathy Congenital MD Yahoo! Page
Dystroglycanopathy with Cognitive Impairment Facebook Page
Cure CMD Facebook Page
Cure CMD Support Facebook Page
When will my child die of Walker-Warburg syndrome?
Unfortunately, Walker-Warburg syndrome (WWS) is a severe, progressive condition for which there is no cure. Even with supportive therapies and medical intervention, almost all individuals with WWS pass away in early child, most often by three years of age.
What will my child’s development look like with Walker-Warburg syndrome?
Walker-Warburg syndrome is characterized my brain abnormalities which cause low muscle tone (hypotonia) and various degrees of intellectual disabilities and seizures. Due to the brain involvement most children with Walker-Warburg syndrome have moderate to severe intellectual disability. Together these symptoms severely limit the child’s development and may prevent them from meeting their milestones such as sitting, crawling/walking, and talking.
What specialist doctors should a person with Walker-Warburg syndrome see?
Walker-Warburg syndrome (WWS) is a condition which varies in its symptoms from one person to the next. Therefore, the particular specialists who should follow and care for individuals with WWS depends on the particular medical problems that person has. Nonetheless, there are a general group of specialties who should make up the care team for an individual with WWS. These include:
What is Walker-Warburg syndrome?
Walker-Warburg syndrome (WWS) is a very rare and severe congenital muscular dystrophy that affects the brain, eyes and muscles. WWS belongs to a group of conditions known as dystroglycanopathies. Signs and symptoms of the condition are typically present before birth or very shortly afterward. Typical features of WWS include a smooth, "cobblestone" appearance to the brain surface, muscle wasting, and eye abnormalities leading to vision loss. Unfortunately, there is no cure for WWS and there is no definitive treatment for this condition. Certain therapies, however, may improve the quality of life and prolong life expectancy for affected individuals. Nonetheless, regardless of the therapies undertaken, affected individuals typically pass away in early childhood, around the age of 3.
What is the usual abbreviation for Walker-Warburg syndrome?
The typical abbreviation for Walker-Warburg syndrome is WWS.
What health problems should I look for in Walker-Warburg syndrome?
The first signs and symptoms of Walker-Warburg syndrome (WWS) are typically identified prenatally or shortly after birth. These are typically increased fluid in the ventricles of the brain ("hydrocephalus") and low muscle tone ("hypotonia"). Because WWS is a progressive disease that affects the muscles, brain and eyes, there are issues that should be looked for in affected individuals. These include:
What gene change causes Walker-Warburg syndrome?
Walker-Warburg syndrome (WWS) is an inherited disease. It can be caused by a pair of changes in any one of several genes. In fact, as of October 2016 there have been 14 genes found to be associated with WWS. WWS is an autosomal recessive disease. In this form of inheritance the gene change is present on one of the first 22 pairs of chromosomes, which are referred to as autosomes. "Recessive" means that in order to have the disease, both copies of the gene are abnormal, or changed. One each of the pair of abnormal genes are typically inherited from both of an affected individual’s parents. The parents, being unaffected carriers of the condition, do not display signs of WWS themselves. For this reason, cases of WWS typically "pop up" in the family, seemingly from nowhere. The genes that have thus far been associated with WWS are:
What does it mean to have inherited a variant in the gene for Walker-Warburg syndrome?
Although the diagnosis of Walker-Warburg syndrome (WWS) can be made clinically based on physical examination and history without genetic testing, genetic testing can be used to confirm the diagnosis in an individual with symptoms suspicious for the disorder. Up to 50% of individuals with a clinical diagnosis of WWS have no identifiable genetic changes causing their disorder by current genetic testing methodologies. A smaller number of affected individuals are found to have a change in the spelling of one of the many genes associated with WWS, but it is unknown whether the specific gene change found would cause disease, and so the genetic test result is not conclusive.
We all have differences in the way our genes are spelled (gene variants). In many cases, these spelling changes do not appear to change the protein that the gene produces and therefore do not seem to lead to any health or developmental problems. Some changes, though, can alter the way a gene works, leading to an abnormal protein product being made. When this happens, a disease can occur. There are several changes that have been identified in the many genes associated with WWS that are known to cause the disorder. In other cases, however, a "variant" or "variant of unknown significance" is found, the effect of which, if any, is unknown.
When a person who is suspected to have WWS has genetic testing and a variant in one of those genes is found, we can not be sure whether that gene change is the cause of the symptoms that person has. If the person had enough symptoms to allow for the diagnosis of WWS to be made clinically, the finding of a variant will likely not lead to the doctor changing or removing the diagnosis. Over time, as more people have genetic testing for WWS, unclear gene variants may be reclassified as disease-causing if identified in enough affected individuals.
It is also possible that a person with signs of WWS but with only a variant identified on genetic testing may have a change or changes in other genes that have not yet been identified as being associated with WWS. Over time, we may identify more genes that cause WWS, leading to more extensive genetic testing for this condition to be possible.
If you have additional questions about what it means to have a variant of unknown significance for a gene associated with WWS, talk to your doctor or contact a genetic counselor. The Find a Genetic Counselor tool on the National Society of Genetic Counselors website can help you to find a genetic counselor in your area.
What can I do for the siblings of children with Walker-Warburg syndrome?
A child with Walker-Warburg syndrome demands a lot of time and focus from parents. Although studies have shown that siblings of children with chronic illness tend to develop strong levels of compassion and empathy, these studies have also shown that siblings can develop feelings of jealousy and anger and high levels of anxiety. It is possible for healthy siblings to feel as if they have been pushed aside when parents focus more of their efforts on their child with a chronic illness. Parents should encourage healthy siblings to discuss their concerns and feelings about living with a sibling with a chronic illness. It is important for parents to acknowledge and address these concerns with their healthy children. Healthy siblings can feel more included in the family structure when they help with the care of their sick sibling. Parents are encouraged to make time for activities specifically for healthy siblings. Some siblings may benefit from support outside of the immediate family, such as meeting with a therapist. The Sibling Support Project is a nonprofit organization that serves the concerns and needs of siblings of people with special health, developmental, and mental health needs. There are also regional support groups for siblings of children with serious health conditions. Your child’s pediatrician or your local hospital may be able to tell you if this type of support group is available in your area.
What are the signs and symptoms of Walker-Warburg syndrome?
There are several features associated with Walker-Warburg syndrome (WWS) and at least some of these features are typically present either before birth or very shortly thereafter. There are three primary areas of the body that are affected by WWS. The first are the muscles. Infants with WWS tend to be floppy, or have low muscle tone ("hypotonia"). The muscle tone tends to worsen over time, leading to significant muscular dystrophy. The second part of the body affected by WWS is the brain. WWS causes abnormal brain development. This leads to a smooth pattern on the surface of the brain, something known as "lissenscephaly". Additionally, this abnormal brain development can cause an accumulation of fluid in the spaces of the brain("cerebral ventricles"), leading to something known as "hydrocephalus". The changes in the brain lead to severe cognitive disabilities, significantly delayed development, and can cause seizures. Finally, WWS affects the nerves. Over time, nerves that are needed for eye development and proper vision deteriorate, often leading to individuals with WWS having very small eyes ("microphthalmia") and poor vision. WWS is a severe and progressive disease. The brain, nerve and muscle deterioration lead to significant breathing problems that ultimately cause early death, often in the first few years of life.
To learn more about the symptoms of WWS, talk with your doctor or consult with a medical geneticist/genetic counselor. To find a local geneticist, use the Find Genetic Services search tool on the American College of Medical Genetics website. To find a local genetic counselor, use the Find a Genetic Counselor search tool on the National Society of Genetic Counselors’ website.
What are the early signs of Walker-Warburg syndrome?
Signs of Walker-Warburg appear at birth; these signs include weak muscle tone (the baby can appear "floppy") and poor suck when feeding. Some of the brain findings may be seen prenatally by an ultrasound or fetal MRI.
Is there newborn testing for Walker-Warburg syndrome?
As of October 2016, Walker-Warburg syndrome (WWS) is not on the Recommended Uniform Screen Panel (RUSP). The RUSP is created by the Health Resources and Services Administration, and states use this list to guide what conditions they screen for on newborn screening. It should be noted that almost all babies with WWS will be suspected as having some type of disorder shortly after birth. At that time, follow-up testing can be performed to help make the diagnosis. If you are concerned that your newborn may have WWS, talk with your child’s pediatrician about your concerns and how to go about obtaining a workup for this condition.
Is there more than one test for Walker-Warburg syndrome?
There are a few different ways to test for Walker-Warburg syndrome (WWS). In addition to a clinical diagnosis (made by a physician on the basis of physical examination and history), genetic testing may identify gene changes known to be associated with WWS. There are many different types of genetic tests that could diagnose WWS. These tests are performed on a sample (usually blood, but also potentially saliva or another tissue type) from an individual. The testing is most typically performed with the involvement of a genetic counselor or medical geneticist.
There are at least 14 genes known to be associated with WWS. Up to 50% of people with a diagnosis of WWS based on symptoms alone do not have an identifiable change in one of these genes. There are a small number of laboratories in the United States that perform testing on the genes associated with WWS. Most of these labs test for a number of the most common genes on a panel at the same time. Other labs test for some or all of these genes as part of a much larger panel that also includes genes associated with other conditions whose features overlap with WWS. For example, there are panels of genes that not only include some of the WWS genes, but also other genes associated with other lissencephaly conditions. It is rare for genetic testing for WWS to be done one gene at a time. Typically, the only instance in which this would occur is if there is a known history in the family of WWS and a relative is being tested for the condition as well, as when there is more than one affected relative in the family it would always be expected to be due to changes in the same gene.
Changes in one of the genes associated with WWS may also be detected by array comparative genomic hybridization (chromosome microarray analysis), which identifies copy number changes (deletions or duplications) across all of the chromosomes, as well as through whole exome or whole genome sequencing.
For more information about testing for WWS, talk to your doctor or consider making an appointment with a medical geneticist and/or a genetic counselor. To find a medical geneticist near you, see the Find Genetic Services page on the American College of Medical Genetics’ website. The Find a Genetic Counselor tool on the National Society of Genetic Counselors website can help you to find a genetic counselor in your area.
Is there clinical research happening on Walker-Warburg syndrome?
Walker-Warburg syndrome (WWS) is a rare condition. Nonetheless, there are many researchers interested in studying this condition. The Muscular Dystrophy Association (MDA) is a very active organization that helps fund research on all forms of muscular dystrophies, including congenital muscular dystrophies (CMDs) such as WWS. To read about current studies on CMDs through the MDA, see the CMD Research Page on their website.
Cure CMD is another organization that is specifically interested in supporting families of individuals with CMDs such as WWS and in particular looking to identify therapies and eventually a cure for this class of disorders. They have a page on their website specifically devoted to studies and trials.
There is an international registry for CMDs called the Congenital Muscular Disease International Registry (CMDIR). This is the largest group of researchers studying conditions such as WWS. This registry is collecting data on a large number of individuals with WWS and other CMDs. Families of individuals with WWS can register and enter data on their affected family member. The CMDIR also has a list of ongoing studies on their website listing current studies on CMDs.
Finally, as of October 2016, there are two clinical trials ongoing in the U.S. in regards to WWS. The can be found on the ClinicalTrials.gov website.
Is there a treatment for Walker-Warburg syndrome?
Unfortunately, there is no cure for Walker-Warburg syndrome (WWS). Certain therapies and treatments, however, can improve affected individuals’ quality of life as well as increase their life expectancy. Nonetheless, with or without these therapies, almost all affected individuals pass away in early childhood, often before three years of age. Specific treatments for WWS will depend on the particular symptoms that a person has and should be coordinated by several specialists including medical geneticists, genetic counselors, pediatricians, ophthalmologists, neurologists and other healthcare specialists. Common therapies for WWS include:
Is palliative care available for children with Walker-Warburg syndrome?
Children with Walker-Warburg syndrome may need palliative care. Palliative care ensures that a dying child is as pain free as possible and that all of their physical, social, emotional, and spiritual needs are met. Palliative care requires a close cooperation among family members, immediate relatives, and physicians, and other medical personnel. A primary care physician or local hospital may be able to offer advice and local resources for palliative care.
The International Children’s Palliative Care Network has specific information and support for families considering palliative care for their children. Additionally, the Global Genes Organization has information on rare genetic conditions and palliative care.
If you have the gene changes associated with Walker-Warburg syndrome, will you always show signs?
It appears that all individuals who inherit two altered copies of one of the genes associated with Walker-Warburg syndrome (WWS) will show signs. Although there is some variability in symptoms from one affected person to another, WWS is essentially uniformly a severe disease that leads to death in early childhood.
I was told we should speak to a genetic counselor about Walker-Warburg syndrome. What should I expect?
Genetic counselors are experts in both genetics as well as the psychosocial implications of having a genetic condition. The genetic counselor will sit down with you and your family and go through the family history, discuss the diagnosis of Walker-Warburg syndrome, and help you work through what the diagnosis means for your family. Genetic counselors can help you talk with other family members about the diagnosis. Genetic counselors can also help you identify support resources available to you, and possibly even connect you with other families who are experiencing the same diagnosis. To learn more about genetic counselors and to find one near you visit the National Society of Genetic Counselors webpage.
I am a carrier of Walker-Warburg syndrome, will I have symptoms?
Walker-Warburg is an autosomal recessive condition, meaning that a person needs 2 genetic mutations, one on each copy of their genes in order to be affected and to have symptoms. Carriers, people with one genetic mutation, do not have symptoms.
How is Walker-Warburg syndrome inherited?
Walker-Warburg syndrome (WWS) is inherited in an autosomal recessive fashion. There have been at least 14 genes associated with WWS, but all of them follow this same inheritance pattern. Autosomal recessive inheritance means that in order to have WWS, the abnormal gene must be passed on by both parents. Because there are so many genes associated with WWS, it is important to know that both parents must be carriers for an abnormality in the same gene. If one parent is a carrier for one abnormal gene associated with WWS, such as POMT1, and the other parent is a carrier for a different abnormal gene associated with WWS, such as ISPD, their offspring are not at increased risk for WWS. If, however, both parents carry abnormalities in the same WWS-associated gene (meaning, one abnormal gene and one normal gene), there is a 25% change with each pregnancy that the baby will be affected with WWS, a 50% chance that the baby will be a carrier for WWS (which will not cause any disease symptoms), and a 25% change that the baby will inherit two normal WWS genes and not have the disease.
How is testing for Walker-Warburg syndrome performed?
Walker-Warburg syndrome (WWS) is usually diagnosed based on clinical findings. Typically, a medical geneticist and/or a neurologist will be involved in making the diagnosis. The following are the types of findings that would make a doctor suspicious of a baby having WWS:
Abnormal brain imaging (either prenatally or after birth by ultrasound and/or MRI)
How do the genes associated with Walker-Warburg syndrome cause the disease?
Walker-Warburg syndrome (WWS) is an autosomal recessive disease. In this form of inheritance the gene change is present on one of the first 22 pairs of chromosomes, which are referred to as autosomes. "Recessive" means that in order to have the disease, both copies of the gene are abnormal, or changed. One each of the pair of abnormal genes are typically inherited from both of an affected individual’s parents. The parents, being unaffected carriers of the condition, do not display signs of WWS themselves. For this reason, cases of WWS typically "pop up" in the family, seemingly from nowhere.
As of October 2016, WWS has been associated with recessive changes in 14 genes. Genes are typically instructions for cells to make a protein. In the case of the genes associated with WWS, the proteins made by those genes all interact with another protein called α-dystroglycan, and perform a modification to α-dystroglycan called glycosylation. α-dystroglycan needs to be glycosylated to function properly. The normal function of α-dystroglycan is to help stabilize particular cells to their surroundings. α-dystroglycan stabilizes cells in the muscle, brain and nerves.
When both copies of one of the genes associated with WWS are altered, α-dystroglycan cannot be glycosylated. This leads to abnormal function of that protein in the muscle, brain, and nerve cells. When α-dystroglycan is abnormal in muscle cells, those cells are not stable. This causes weak muscle fibers that are broken down quickly by the body. This is the cause of the muscular dystrophy associated with WWS. When α-dystroglycan is abnormal in brain and nerve cells, the layout of the nerve cells in the brain is altered. This leads to the smooth, "cobblestone" appearance of the brain ("lissencephaly") seen in individuals with WWS. It is unknown exactly how the genetic changes lead to vision loss in WWS, but because α-dystroglycan is important in nerve function, it is thought that the genetic change may alter the formation and function of the optic nerve.
For more information about how genes that can cause WWS, visit the Genetics Home Reference, National Organization for Rare Disorders, or Gene Reviews summaries.
How do I find clinical research on Walker-Warburg syndrome?
There are several ways to find active, ongoing research on Walker-Warburg syndrome (WWS). The Muscular Dystrophy Association (MDA) is a very active organization that helps keep families up to date on research on all forms of muscular dystrophies, including congenital muscular dystrophies (CMDs) such as WWS. To read about current studies on CMDs through the MDA, see the CMD Research Page on their website.
Cure CMD is another organization that is specifically interested in looking to identify therapies and eventually a cure for CMDs such as WWS. They have a page on their website specifically devoted to studies and trials.
There is an international registry for CMDs called the Congenital Muscular Disease International Registry (CMDIR). This is the largest group of researchers studying conditions such as WWS. This registry is collecting data on a large number of individuals with WWS and other CMDs. Families of individuals with WWS can register and enter data on their affected family member. The CMDIR also has a list of ongoing studies on their website listing current studies on CMDs.
Finally, the ClinicalTrials.gov website is a good place to look for new and ongoing clinical trials in regards to WWS. To find these studies, go to ClinicalTrials.gov and type "Walker-Warburg syndrome" in the search box.
How do I find a center of excellence in Walker-Warburg syndrome?
Walker-Warburg syndrome belongs to a class of disorders known as congenital muscular dystrophies (CMDs). There are many centers of excellence where individuals with CMDs like WWS and other muscular dystrophies can get state of the art care. The MDA certifies clinics that provide best-in-class, comprehensive care for muscular dystrophies. To find an MDA-certified clinic near you, see their list of MDA Care Centers.
How common is Walker-Warburg syndrome?
Walker-Warburg syndrome (WWS) is generally a very rare condition. In fact, the true frequency of the condition is unknown, but it is estimated to occur somewhere between 1 in 60,000 to 1 in 200,000 or fewer births.
WWS is slightly more common in individuals of Ashkenazi Jewish ancestry. About 1 in 120 individuals of Ashkenazi Jewish descent is a carrier for WWS. Although the carrier rate in this population is higher than in other populations, the incidence of WWS in Ashkenazi Jewish individuals is still only about 1 in 60,000.
How can the diagnosis of Walker-Warburg syndrome differ among individuals?
While all children with Walker-Warburg syndrome have brain abnormalities, which cause low muscle tone and feeding difficulties, not everyone will have the same brain abnormalities. The severity of the brain abnormalities also varies; some kids survive a few years while others pass away in the first few months of life.
The eye findings in children with Walker-Warburg can vary widely from small eyes to cataracts to underdeveloped optic nerves.
How can I donate money to research on Walker-Warburg syndrome?
There are several organizations devoted to researching Walker-Warburg syndrome (WWS) in the hopes of finding new treatments and eventually a cure. Donations to these organizations can help further this research. The Muscular Dystrophy Association (MDA) is a very active organization that helps keep families up to date on research on all forms of muscular dystrophies, including congenital muscular dystrophies (CMDs) such as WWS. To donate to the MDA, go to the donation page on their website.
Cure CMD is another organization that is specifically interested in looking to identify therapies and eventually a cure for CMDs such as WWS. To donate to their organization go to the donation page on their website.
Does my child need genetic testing to confirm a diagnosis of Walker-Warburg syndrome?
Walker-Warburg syndrome is diagnosed primarily through a clinical evaluation and biochemical testing. Biochemical testing looks at the activity level of different enzymes and other substances in the blood. Walker-Warburg syndrome may be suspected prenatally if brain abnormalities are seen on ultrasound or a fetal MRI; Walker-Warburg syndrome can be diagnosed after birth by a clinical evaluation.
Genetic testing may still be used as molecular confirmation of the diagnosis. There are several genes that can cause Walker-Warburg syndrome, and it is likely that not all of the genes have been found. Therefore, it is important to know that a negative genetic test (two known mutations were not found) does not exclude a diagnosis of Walker-Warburg syndrome. However, if genetic mutations are found in the child with Walker-Warburg syndrome then other family members may be tested for the same mutations. This would help determine who in the family is a carrier for the condition and what their chance of having a child affected by Walker-Warburg syndrome is.
Does anything make Walker-Warburg syndrome worse?
Walker-Warburg syndrome is a progressive disease that ultimately leads to death, usually in early childhood. There is nothing known that worsens the disease or speeds up the progression.
Can Walker-Warburg syndrome be diagnosed prenatally?
Typically the diagnosis of Walker-Warburg syndrome (WWS) is made after birth. However, if both partners in a couple are known to be carriers of a causative change in one of the WWS genes, prenatal diagnosis is possible. This can be done as early as 10 weeks gestation through a procedure known as chorionic villus sampling or around 15 weeks or later through a procedure known as amniocentesis. Before proceeding with such testing, it is recommended that any pregnant woman at risk for offspring with this disorder meet with a genetic counselor to discuss the benefits, risks and limitations of her testing options. The Find a Genetic Counselor tool on the National Society of Genetic Counselors website can help you to find a genetic counselor in your area.
Are there other names for Walker-Warburg syndrome?
Walker-Warburg syndrome is also known as:
Are there other diseases that look like Walker-Warburg syndrome?
There are several conditions whose features overlap with Walker-Warburg syndrome (WWS). WWS belongs to a category of conditions known as congenital muscular dystrophies (CMDs). There are many CMD conditions, most of whose features overlap with WWS to some extent, making differentiating one form of CMD from another difficult at times. In particular, poor muscle tone ("hypotonia") at birth, progressive worsening of neurological symptoms, and eventual onset of spinal or joint deformities are all common among the CMDs. Two other types of CMD, Fukuyama CMD and muscle-eye-brain disease (MEB), overlap particularly strongly with the features of WWS; nonetheless, they are generally less severe. For more information on the CMDs and to learn more about their similarities and differences, it may be helpful to review the Gene Review on CMDs.
Apart from CMDs, there are other conditions whose features overlap with WWS. They are listed below:
Are there good support groups for Walker-Warburg syndrome?
There are several groups which support individuals and families with Walker-Warburg syndrome:
Are there any odd features of Walker-Warburg syndrome?
One feature of Walker-Warburg syndrome (WWS) which is somewhat unique is the specific appearance of the surface of the brain, something referred to as "cobblestone lissenscephaly". WWS belongs to a category of conditions known as congenital muscular dystrophies (CMDs). Although cobblestone lissencephaly can be seen in some other forms of CMD, it is particularly strongly associated with WWS.