Walker-Warburg Syndrome: Symptoms, Causes, Treatment
Synopsis: Walker-Warburg Syndrome (WWS) is a rare genetic and multi-system disorder characterized by eye and brain abnormalities and muscle disease. People affected by Walker-Warburg Syndrome commonly experience a combination of severe muscle, eye, and brain defects. Children of parents with one infant affected by WWS present a twenty-five percent chance of having WWS.
Walker-Warburg Syndrome is considered a form of muscular dystrophy, a group of disorders characterized by both weakness and atrophy of a person's various voluntary muscles in their body.
The U.S. Social Security Administration (SSA) has included Walker Warburg Syndrome as a Compassionate Allowance to expedite a disability claim.
Defining Walker-Warburg Syndrome (WWS)
Walker-Warburg Syndrome (WWS) is a rare, genetic, and multi-system disorder characterized by eye and brain abnormalities and muscle disease. People with WWS experience symptoms that vary from person to person, including the severity of the symptoms. Among the more consistent features of WWS are malformations of the person's brain structures, a smooth appearance of the surface of the brain due to a lack of the usual folds referred to as 'lissencephaly,' progressive degeneration and weakness of the person's voluntary muscles or, 'congenital muscular dystrophy,' and different developmental abnormalities of their eyes. WWS is a syndrome that is inherited in an autosomal recessive trait.
Walker-Warburg Syndrome is considered to be a form of muscular dystrophy, a group of disorders that is characterized by both weakness and atrophy of a person's various voluntary muscles in their body. There are around thirty unique disorders that comprise muscular dystrophy. Muscular dystrophies affect different muscles in a person's body, have different inheritance and severity patterns, and have different ages of onset.
Unfortunately, WWS is a form of lethal brain disorder that involves cerebral agyria, hydrocephalus, retinal dysplasia, and additional eye abnormalities, including occipital encephalocele on occasion. People affected by WWS can experience hydronephrosis, cryptorchism, small penis, anoperineal fistula, pelvic ureteric junction obstruction, talipes, and fatal neurological lesions. The majority of people affected by the syndrome perish before the age of one. Multiple malformations of an affected person's eyes, brain, and muscular tissues distinguish WWS from other similar malformation syndromes. WWS is also known by the following names:
- HARD Syndrome
- Pagon Syndrome
- Chemke Syndrome
- Warburg Syndrome
- COD-MD Syndrome
- HARD +/-E Syndrome
- Cerebroocular Dysgenesis
- Hydrocephalus, Agyria, and Retinal Dysplasia
- Cerebroocular Dysplasia-Muscular Dystrophy Syndrome
Symptoms of Walker-Warburg Syndrome
People affected by WWS commonly experience a combination of severe muscle, eye, and brain defects. The person affected experiences multiple brain malformations, including type II lissencephaly, a condition in which the brain does not have the usual convolutions and presents an unusually smooth appearance without folds. Eighty-four percent of babies with Walker-Warburg Syndrome have an enlarged head, referred to as, 'macrocephaly.' Approximately half of the children born with WWS are born with macrocephaly; another one-fourth of children with WWS develop macrocephaly after birth. Ninety-five percent of children with the syndrome experience hydrocephaly or an excessive accumulation of cerebrospinal fluid around their brains. The fluid fills abnormally large ventricles or spaces in the child's brain.
Approximately half of all babies born with Walker-Warburg Syndrome have encephalocele, a gap in their skull that does not seal. Their 'meninges,' or membranes that cover their brain, might protrude through this gap in their skull. The formation of this gap, or 'encephalocele,' can be associated with the failure of their neural tube to close during their development. Walker-Warburg Syndrome is characterized by a malformation of the baby's cerebellum, as well as distinct muscle abnormalities, including congenital muscular dystrophy.
Vision or 'ocular' defects occur in every infant with Walker-Warburg Syndrome. The more common ocular defects experienced by infants with WWS include eyes that are abnormally small and retinal abnormalities arising from improper development of the light-sensitive area at the back of their eyes. Infants with WWS may have cataracts in their eyes as well. Greater than seventy-five percent of the infants who are born with WSS experience a defect in the anterior chamber of their eye.
Walker-Warburg Syndrome results in severe intellectual disability. Microscopic examination of the brains of children with WWS shows that the tissues and cells of their brains develop in a highly-disorganized manner. Babies with Walker-Warburg Syndrome may also experience seizure activity.
Causes of WWS
Medical science knows that Walker-Warburg Syndrome is inherited in an autosomal recessive pattern. Children of parents with one infant affected by WWS present a twenty-five percent chance of having WWS. The medical science community has not located the causative genes of Walker-Warburg Syndrome. There are documented cases of siblings with WWS being born to closely related parents and in families that have not been known to be at risk. WWS is very rare.
Diagnosing Walker-Warburg Syndrome
Prenatal ultrasound imaging may show some brain anomalies associated with Walker-Warburg Syndrome, including encephalocele or hydrocephalus. Unfortunately, lissencephaly cannot be diagnosed through an ultrasound imaging examination because an average infant's brain also appears smooth. Once a child has been born, a diagnosis of WWS can be made based on their physical features and ultrasound examinations. An MRI can be used to confirm the child's smooth brain features or type II lissencephaly, which is a feature of WWS.
A genetic analysis can help distinguish Walker-Warburg Syndrome from Fukuyama-type congenital muscular dystrophy, a form of muscular dystrophy with several similar features to WWS. Walker-Warburg Syndrome can be differentiated from other forms of syndromes that present encephalocele or hydrocephalus through the presence of eye abnormalities such as cataracts, retinal defects, or anterior chamber defects in the child's eyes.
Treatment of WWS
Medical science has not discovered a form of treatment for the severe brain malformations experienced by children with Walker-Warburg Syndrome. Supportive care, provision of comfort, and nursing needs are very much required for babies with WWS. Some babies with WWS experience seizure activity that might be controlled with anti-seizure medications. A doctor may place a 'shunt,' or short plastic tube, in the baby's body to divert excess cerebral spinal fluid to another area of the body where it can ultimately be absorbed in an attempt to control hydrocephalus.
The medical community recommends genetic counseling for families at risk of Walker-Warburg Syndrome. Babies with WWS have a minimal life expectancy; the syndrome is commonly considered lethal. The majority of children with the syndrome die before the age of two.
Walker-Warburg Syndrome Awareness
Walker-Warburg Syndrome Awareness Ribbon
Thomas C. Weiss is a researcher and editor for Disabled World. Thomas attended college and university courses earning a Masters, Bachelors and two Associate degrees, as well as pursing Disability Studies. As a Nursing Assistant Thomas has assisted people from a variety of racial, religious, gender, class, and age groups by providing care for people with all forms of disabilities from Multiple Sclerosis to Parkinson's; para and quadriplegia to Spina Bifida.
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Disabled World is an independent disability community founded in 2004 to provide disability news and information to people with disabilities, seniors, their family and/or carers. See our homepage for informative reviews, exclusive stories and how-tos. You can connect with us on social media such as X.com and our Facebook page.
Permalink: <a href="https://www.disabled-world.com/disability/types/mobility/md/walker-warburg.php">Walker-Warburg Syndrome: Symptoms, Causes, Treatment</a>
Cite This Page (APA): Thomas C. Weiss. (2010, March 6). Walker-Warburg Syndrome: Symptoms, Causes, Treatment. Disabled World. Retrieved December 4, 2023 from www.disabled-world.com/disability/types/mobility/md/walker-warburg.php
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