Symptoms of FKTN Gene Walker-Warburg Syndrome Genetic Test
Walker-Warburg Syndrome (WWS) is a severe form of congenital muscular dystrophy associated with brain and eye abnormalities. This condition, primarily affecting the development of the muscle, brain, and eyes, is caused by genetic mutations in several genes, including the FKTN gene. Understanding the symptoms of Walker-Warburg Syndrome is crucial for early diagnosis and intervention. DNA Labs UAE offers a comprehensive genetic test for the FKTN gene mutation to aid in the diagnosis of this condition.
The symptoms of Walker-Warburg Syndrome are often noticeable at birth or in early infancy. These symptoms are diverse and affect multiple systems within the body. The most common symptoms include:
- Muscle Weakness: Infants with WWS typically exhibit severe muscle weakness, which leads to delays in reaching developmental milestones such as sitting up, crawling, or walking.
- Brain Abnormalities: A significant hallmark of WWS is the presence of brain malformations, including lissencephaly (smooth brain), hydrocephalus (accumulation of fluid in the brain), and cerebellar malformations.
- Eye Abnormalities: Eye problems are prevalent in WWS, including cataracts, glaucoma, and retinal dysplasia, which can lead to vision impairment or blindness.
- Intellectual Disability: Due to the brain abnormalities associated with WWS, children affected by this syndrome often experience developmental delays and intellectual disability.
- Epilepsy: Seizures are common in individuals with WWS, resulting from the abnormal brain structure and function.
- Craniofacial Abnormalities: Some affected individuals may have distinctive facial features, including a high forehead, prominent back of the skull, and a small nose with upturned nostrils.
Given the complexity and severity of these symptoms, early and accurate diagnosis is critical. DNA Labs UAE provides a genetic test specifically designed to detect mutations in the FKTN gene, which is one of the primary causes of Walker-Warburg Syndrome. This test is a vital tool in the diagnostic process, offering families and healthcare providers crucial information that can guide treatment and management decisions.
The cost of the FKTN Gene Walker-Warburg Syndrome Genetic Test at DNA Labs UAE is 4400 AED. This investment can provide invaluable insights into the condition, facilitating early interventions that can significantly improve the quality of life for affected individuals. For more information on the test and to schedule an appointment, please visit DNA Labs UAE.
Understanding the symptoms of Walker-Warburg Syndrome and having access to genetic testing are crucial steps in managing this condition. By providing detailed information and resources, DNA Labs UAE aims to support families and individuals affected by WWS, offering hope and guidance through their journey.
