Get to know Dandy Walker's Syndrome

Dandy Walker's syndrome is a rare genetic disorder. This disease affects the development of the brain, especially the cerebellum. Sufferers will experience interference with coordination and body movements. In patients with Dandy-Walker syndrome, abnormalities occur in brain development, especially in the cerebellum and cerebral fluid channels. The cerebellum (cerebellum) is the part of the brain that helps regulate body movement coordination. Patients with Dandy-Walker syndrome who experience disorders of brain growth and development can experience disruption in the regulation of movement and coordination of the body, as well as problems with intellectual function. Not only in the brain, sufferers of Dandy-Walker syndrome can also experience disorders in other organs such as congenital heart disease, problems in the formation of the urinary tract, neck deformities, and birth defects.

Symptoms of Dandy Walker's Syndrome

Generally, the symptoms and signs of Dandy-Walker syndrome are seen at birth or develop in the first year of life. But in some cases, this disorder has been seen since in the womb. Hydrocephalus is one of the most common forms of this disorder. 70-90% of sufferers of Dandy-Walker syndrome experience enlargement of the head (macrocephaly) due to hydrocephalus. The emergence of hydrocephalus in this syndrome is caused by a problem in the formation of cerebral fluid channels. High fluid pressure inside the head can cause brain damage. People with Dandy-Walker syndrome can also experience delayed motor development, including problems with grasping, crawling, walking, and coordinating limb movements. Muscle stiffness, spasms, and paralysis in one limb also often occur due to this condition. In addition, in some sufferers can be found polydactyly (more than five fingers), syndactyly (the finger does not separate), and cleft lip.

Causes and Risk Factors of Dandy Walker's Syndrome

Studies show that genetic mutations are the cause of Dandy-Walker's syndrome. Another cause is a genetic disorder that is a chromosomal abnormality called trisomy, in which there are three chromosomes, which should only be a pair. In Dandy-Walker syndrome, trisomy generally occurs on chromosomes 9, 13, 18, or 21. Like most genetic diseases, genetic mutations and chromosomal abnormalities are not known the exact cause. Chances are, this is influenced by environmental factors during pregnancy, for example. But the relationship of these conditions with Dandy-Walker's syndrome still requires further research. Most cases of Dandy-Walker syndrome are random. This means, the disease can appear in children who have no family history of genetic diseases. But indeed, parents from families who have a history of genetic disorders are more at risk of giving birth to children with Dandy-Walker syndrome. This is because abnormal genes can be inherited.

Diagnosis and Treatment of Dandy Walker's Syndrome

The diagnosis of Dandy-Walker syndrome is done through a physical examination, and investigations in the form of ultrasound and MRI. In addition, genetic testing is also needed to confirm gene or chromosomal abnormalities that cause Dandy-Walker syndrome. Treatment of Dandy Walker's syndrome depends on the organ that has the disorder. For example if a patient experiences hydrocephalus, surgery is needed to overcome the blockage and excess fluid in the brain. The goal is to reduce the pressure inside the head and is expected to improve the symptoms that occur. Treatment can also include various forms of therapy, including physiotherapy to restore flexibility and build muscle strength. Anti-seizure medication can also be given if there are seizures.

Survival of Dandy Walker's Syndrome Patient

Life expectancy for sufferers of Dandy-Walker syndrome depends on the severity of the disease. The more organs that have abnormalities, the lower the life expectancy. Meanwhile, sufferers' functional abilities depend on the degree of abnormality in the brain. There are some cases where people with Dandy-Walker syndrome can live and experience good growth and development, but there are also other cases where children with Dandy-Walker syndrome experience severe growth and development obstacles. Therefore, early detection and examination of pregnancy is important to determine whether there are health problems including genetic disorders in the fetus. Consult your pediatrician to determine an appropriate treatment plan for the condition of Dandy-Walker syndrome.