What Is Walker-Warburg Syndrome?
Walker - Warburg Syndrome is an extremely rare pathologic genetic condition which bear upon multiple harmonium system of the body to admit the brain , muscles , and eye . In this stipulation , the brain does not have the normal fold but or else is smooth in coming into court . There are also other associated malformation of other structures of the Einstein specifically the cerebellum and the brain stem .
A child with Walker - Warburg Syndrome will also have severe ocular abnormality with fond to complete cecity . Additionally , nestling with Walker - Warburg Syndrome will have progressive failing of the voluntary muscles of the physical structure . This condition is visit as innate mesomorphic muscular dystrophy .
A shaver with Walker - Warburg Syndrome is ineffectual to pull through for more than one year of life in majority of the cases even though the symptoms may be varying and disagree on a compositor’s case to slip fundament .
Walker - Warburg Syndrome follows an autosomal recessive pattern of inheritance meaning that two copy of the defective cistron one from each parent is require for a child to acquire Walker - Warburg Syndrome .
What Are The Causes Of Walker-Warburg Syndrome?
Walker - Warburg Syndrome is basically triggered by faulty cistron that ply to normal functioning of the brain , eyes , and the heftiness of the body . As submit , it abide by an autosomal recessionary normal think of that two transcript of the faulty gene one from each parent is call for for development of this consideration .
Due to the defective gene , there is complete lack of protein that are extremely full of life for proper normal ontogenesis and performance of the brain , eyes , and muscles . These protein work in tandem with another protein called the α - dystroglycan . This protein is find oneself in the tissue layer of musculus and nervus cells .
This protein facilitates stabilization of the muscle cell and financial aid in migration of the nerve cell in the brain during growth . The protein that do Walker - Warburg Syndrome are involve for attachment of the sugar molecules to α - dystroglycan . This process is call as glycosylation .
Glycosylation is super necessary for α - dystroglycan to function normally . If any of the genes that are responsible for encoding of any of the proteins responsible for Walker - Warburg Syndrome gets mutated then the glycosylation does not take place normally leave in the maturation of Walker - Warburg Syndrome .
There are at least 14 genes as of now that have been relate to Walker - Warburg Syndrome of which some are B3GALNT2 , FKRP , GMPPB , and POMT1 . Abnormal Mutation in any of these 14 genes result in Walker - Warburg Syndrome .
What Are The Symptoms Of Walker-Warburg Syndrome?
The classic presenting feature of Walker - Warburg Syndrome is the presence of irregularity in the brain and eyes . child with Walker - Warburg Syndrome will also have innate muscular muscular dystrophy with gradual degeneration and helplessness of the voluntary muscles of the body .
As a result of the hefty muscular dystrophy , the fry will have severe hypotonia of the muscle . This muscle weakness gradually worsens as the disease status advances . Joint contractures are also image in some cases of Walker - Warburg Syndrome .
Regarding freakishness in the mastermind , the normal fold of the head are leave out in children with Walker - Warburg Syndrome . Hydrocephalus is also seen in baby with Walker - Warburg Syndrome .
Underdevelopment of the cerebellum and brain-stem is also in Walker - Warburg Syndrome resulting incoordinated voluntary muscle movement which is controlled by the cerebellum . Breathing and salivation also gets affected as these are controlled by the brainstem .
Ocular abnormalities which are seen in youngster with Walker - Warburg Syndrome can let in abnormally small eyes , absence seizure of the optic cheek , retinal malformations result in retinal disengagement .
Formation of cataract and growth of glaucoma can also be find out in individuals with Walker - Warburg Syndrome . Almost all of these abnormalities direct to overtone of complete blindness in the child with Walker - Warburg Syndrome .
If a child live this disease past one yr of biography then even while grow he or she will have significant delays in reaching their milepost . They will have important learning handicap .
They may also have problems with respiration and swallowing as a result of Walker - Warburg Syndrome . In some case urinary blockage has also been noted in nipper with Walker - Warburg Syndrome along with unfitness of the testes to descend into the scrotum in males due to Walker - Warburg Syndrome .
How Is Walker-Warburg Syndrome Diagnosed?
A prenatal ultrasound can detect the bearing of Walker - Warburg Syndrome in late pregnancies . The diagnosis can be confirmed at birth with the characteristic findings of Walker - Warburg Syndrome .
The abnormality in the learning ability can be clearly seen on an MRI or CT scan of the brain . Once suspected , a genetic testing will clearly show mutant in the factor responsible for make this shape and corroborate the diagnosis of Walker - Warburg Syndrome .
How Is Walker-Warburg Syndrome Treated?
As of now , there is no handling for Walker - Warburg Syndrome . In legal age of the case , a child is not capable to survive more than a yr of life with this condition . The treatment is purely symptomatic and supportive .
The discourse will ask combined drive of a squad of doc constitute of pediatrics , orthopedics , eye doctor , and neurologist who can formulate a comprehensive treatment design for the child with Walker - Warburg Syndrome .
Seizures cause due to this condition can be treat with anticonvulsant drug whereas operating theatre may be required to care for conditions like hydrocephalus . Aggressive physical therapy will be demand for advance of muscle strength .
For feeding and swallowing difficulties an NG tube may be place . Despite all the try , the overall prognosis is rather poor for a child suffering from Walker - Warburg Syndrome .
