Walker-Warburg Syndrome (WWS) and Muscle-Eye-Brain Disease (MEB) are severe forms of congenital muscular dystrophies associated with brain and eye abnormalities. These conditions are linked to mutations in several genes, including the FKRP gene (Fukutin-Related Protein). Understanding the symptoms and genetic testing options for these diseases is crucial for early diagnosis and management. DNA Labs UAE offers comprehensive genetic testing for the FKRP gene related to these conditions, providing essential information for affected families.
Symptoms of Walker-Warburg Syndrome and Muscle-Eye-Brain Disease
Walker-Warburg Syndrome and Muscle-Eye-Brain Disease are characterized by a complex spectrum of symptoms that affect multiple systems within the body. The most common symptoms associated with these disorders include:
- Muscular dystrophy, leading to muscle weakness and decreased muscle tone from birth or early infancy.
- Brain malformations, including lissencephaly (smooth brain), which affects the development of brain folds and grooves, leading to intellectual disabilities and seizures.
- Congenital eye defects such as cataracts, glaucoma, and retinal dysplasia, which can lead to vision impairment or blindness.
- Developmental delays, including difficulties with motor skills and cognitive functions.
- Microcephaly, a condition where the head circumference is smaller than normal, indicating abnormal brain development.
These symptoms result from the underlying genetic mutations affecting the development of the muscle, brain, and eyes during the early stages of fetal development.
Genetic Testing for FKRP Gene Related Disorders
Genetic testing plays a pivotal role in diagnosing Walker-Warburg Syndrome and Muscle-Eye-Brain Disease. DNA Labs UAE offers a specific genetic test that targets mutations in the FKRP gene, which is critical for the accurate diagnosis of these conditions. This test is essential for:
- Confirming the diagnosis of WWS or MEB in individuals presenting with the characteristic symptoms.
- Providing vital information for family planning and understanding the risk of recurrence in future pregnancies.
- Enabling access to supportive treatments and interventions tailored to the specific needs of the affected individual.
The FKRP gene related genetic test offered by DNA Labs UAE is priced at 4400 AED. While the cost may seem significant, the value of obtaining a precise diagnosis cannot be overstated, as it opens the door to targeted support and management options.
Why Choose DNA Labs UAE for FKRP Gene Testing?
Choosing DNA Labs UAE for FKRP gene testing ensures access to state-of-the-art genetic analysis performed by a team of experienced professionals. The lab utilizes advanced technologies to provide accurate and reliable results. Furthermore, DNA Labs UAE is committed to confidentiality and ethical standards, ensuring that sensitive information is handled with the utmost care.
For more information about the FKRP gene Walker-Warburg Syndrome or Muscle-Eye-Brain Disease FKRP related genetic test, please visit DNA Labs UAE.
Early diagnosis and understanding of Walker-Warburg Syndrome and Muscle-Eye-Brain Disease can significantly impact the quality of life for affected individuals and their families. With the FKRP gene test, DNA Labs UAE provides a crucial tool in the battle against these challenging conditions, offering hope and support to those in need.
