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Walker-Warburg Syndrome - Facts and Information

Author: Disabled World

Published: 2010-03-06

Synopsis and Key Points:

Walker-Warburg Syndrome is a rare genetic and multi-system disorder characterized by eye and brain abnormalities and muscle disease.

Main Digest

Walker-Warburg Syndrome is considered to be a form of muscular dystrophy, a group of disorder that are characterized by both weakness and atrophy of a person's various voluntary muscles in their body.

Defining Walker-Warburg Syndrome (WWS)

Walker-Warburg Syndrome (WWS) is a form of rare, genetic and multi-system disorder that is characterized by eye and brain abnormalities and muscle disease. People with WWS experience symptoms that vary from person to person, to include 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 disorder that are characterized by both weakness and atrophy of a person's various voluntary muscles in their body. There are around thirty unique disorders which comprise the muscular dystrophies. Muscular dystrophies affect different muscles in a person's body, have different inheritance and severity patterns, as well as different ages of onset.

Unfortunately, WWS is a form of lethal brain disorder that involves cerebral agyria, hydrocephalus, retinal dysplasia and additional eye abnormalities, to include occipital encephalocele on occasion. People affected by WWS can experience hydronephrosis, cryptorchism, small penis, anoperineal fistula, pelviureteric 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 forms of 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 WWS

People who are affected by WWS commonly experience a combination of severe muscle, eye, and brain defects. The person affected experiences multiple malformations of their brain, to include type II lissencephaly, a condition in which their 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 they are born. Ninety-five percent of children with the syndrome experience hyrdocephaly, or an excessive accumulation of cerebrospinal fluid around their brain. 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 muscle abnormalities that are distinct, to include 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 is aware that Walker-Warburg Syndrome is inherited in an autosomal recessive pattern. Children of parents who have had 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, as well as in families that have not been known to be at risk. WWS is very rare.

Diagnosing WWS

Prenatal ultrasound imaging may show some of the brain anomalies that are associated with Walker-Warburg Syndrome, to include either encephalocele or hydrocephalus. Unfortunately, lissencephaly is something that 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 on the basis of their physical features, as well as ultrasound examinations. An MRI can be used in order to confirm the child's smooth brain features, or type II lissencephaly, that is a feature of WWS.

A genetic analysis can help to distinguish Walker-Warburg Syndrome from Fukuyama-type congenital muscular dystrophy, a form of muscular dystrophy that has a number of 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. The seizure activity some babies with WWS experience 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 their body where it can ultimately be absorbed in an attempt to control hydrocephalus.

The medical community is recommending genetic counseling for families who are at risk of Walker-Warburg Syndrome. Babies with WWS have a very limited life expectancy; the syndrome is commonly considered to be lethal. The majority of children with the syndrome die prior to the age of two.

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