Cerebellar ataxia with spasticity is a rare, inherited neurological disorder characterized by a combination of cerebellar ataxia, which affects coordination and balance, and spasticity, which refers to stiffness or tightness of the muscles. The condition is linked to mutations in the GBA2 gene. Understanding the symptoms of this disorder is crucial for early diagnosis and management. DNA Labs UAE offers a comprehensive genetic test for this condition, aimed at providing accurate diagnosis and facilitating appropriate management strategies.
Understanding GBA2 Gene Cerebellar Ataxia with Spasticity
The GBA2 gene plays a significant role in the central nervous system’s functioning, impacting the metabolism of certain lipids. Mutations in this gene can lead to the accumulation of toxic substances in the brain, particularly affecting the cerebellum and spinal cord, which are critical for controlling movement and coordination. This accumulation is what leads to the symptoms associated with cerebellar ataxia with spasticity.
Symptoms of GBA2 Gene Cerebellar Ataxia with Spasticity
The symptoms of cerebellar ataxia with spasticity can vary significantly among individuals but typically include a combination of the following:
- Difficulty with coordination and balance, leading to frequent falls
- Gait abnormalities, including a wide-based or unsteady walk
- Spasticity, or increased muscle tone, leading to stiffness and difficulty moving
- Muscle weakness
- Difficulty with fine motor skills, such as writing or buttoning clothes
- Speech difficulties, including slow or slurred speech
- Visual disturbances, such as nystagmus, which involves involuntary eye movements
It is important to note that the severity and combination of symptoms can vary widely among affected individuals. Early diagnosis and intervention are crucial in managing the symptoms and improving the quality of life for those affected.
GBA2 Gene Cerebellar Ataxia with Spasticity Genetic Test at DNA Labs UAE
DNA Labs UAE offers a specialized genetic test for diagnosing cerebellar ataxia with spasticity linked to the GBA2 gene. This test is designed to identify mutations in the GBA2 gene that are responsible for the condition. By providing a definitive diagnosis, the test enables healthcare providers to tailor management strategies to the individual’s specific needs.
Cost of the Genetic Test
The cost of the GBA2 gene cerebellar ataxia with spasticity genetic test at DNA Labs UAE is 4400 AED. This cost includes the full analysis of the GBA2 gene for mutations known to cause the condition.
Why Choose DNA Labs UAE for Your Genetic Testing Needs?
DNA Labs UAE is a leading provider of genetic testing services in the United Arab Emirates. With state-of-the-art facilities and a team of experienced geneticists and laboratory technicians, DNA Labs UAE is committed to providing accurate and reliable genetic testing services. The GBA2 gene cerebellar ataxia with spasticity genetic test is just one example of the comprehensive range of tests available to help diagnose and manage a variety of genetic conditions.
Conclusion
Cerebellar ataxia with spasticity is a challenging condition, both for those affected and their families. Understanding the symptoms and obtaining an accurate diagnosis are the first steps towards effective management. DNA Labs UAE’s GBA2 gene cerebellar ataxia with spasticity genetic test provides a valuable tool for achieving this goal. For more information or to schedule a test, visit DNA Labs UAE.
