Hyperekplexia, also known as “startle disease,” is a rare, inherited neurological disorder characterized by an exaggerated startle response. This condition can be due to mutations in several genes, one of which is the GLRB gene. The GLRB gene provides instructions for making a component of glycine receptors in the brain. These receptors are critical for the inhibition of motor neurons, preventing excessive movements. When mutations occur in the GLRB gene, the result can be a disruption in the normal function of glycine receptors, leading to the symptoms associated with hyperekplexia.
Recognizing the symptoms of hyperekplexia early on is crucial for managing the condition and improving the quality of life for those affected. Some of the common symptoms associated with GLRB gene hyperekplexia include:
- Exaggerated startle response to unexpected stimuli, which can be more severe in infants and decrease with age.
- Stiffness of the body, particularly in neonates, which might improve with movement.
- Temporary cessation of breathing (apnea) following the startle response in severe cases.
- Developmental delay and feeding difficulties in infants due to muscle stiffness.
- Nocturnal myoclonus, which is characterized by sudden, involuntary muscle jerks during sleep.
- Increased risk of sudden infant death syndrome (SIDS) in severe cases.
- Frequent falls due to stiffness and balance issues, particularly in older children and adults.
Given the genetic nature of hyperekplexia, genetic testing plays a pivotal role in diagnosing the condition. DNA Labs UAE offers a comprehensive GLRB Gene Hyperekplexia Genetic Test designed to identify mutations in the GLRB gene that are responsible for the disorder. This test is an invaluable tool for families seeking answers about the cause of their loved one’s symptoms and for healthcare professionals who need a definitive diagnosis to tailor management and treatment strategies effectively.
The cost of the GLRB Gene Hyperekplexia Genetic Test at DNA Labs UAE is 4400 AED. This investment covers the test itself, a detailed report of the findings, and a consultation with a genetic counselor. The counselor can help interpret the results, explain the implications for the patient and their family, and discuss possible next steps in managing the condition.
Early diagnosis through genetic testing is essential for the effective management of hyperekplexia. It can guide treatment decisions, inform family planning, and lead to a better understanding of the condition. If you or a loved one are exhibiting symptoms of hyperekplexia, consider reaching out to DNA Labs UAE for the GLRB Gene Hyperekplexia Genetic Test. With this test, you can take a crucial step towards obtaining a clear diagnosis and accessing the support and resources necessary for managing the condition.
For more information about the test and to schedule an appointment, visit https://dnalabsuae.com/tests/glrb-gene-hyperekplexia-genetic-test/.
