Understanding SCA-12 Spinocerebellar Ataxia
Spinocerebellar Ataxia Type 12 (SCA-12) is a progressive neurodegenerative disorder characterized by a wide range of symptoms that primarily affect an individual’s motor skills. It is caused by a mutation in the PPP2R2B gene located on chromosome 5. This condition is part of a group of genetic disorders known as spinocerebellar ataxias, which are marked by their impact on the cerebellum—the part of the brain responsible for coordinating movement.
Symptoms of SCA-12
The symptoms of SCA-12 can vary widely among affected individuals but generally include a combination of motor dysfunction, cognitive decline, and psychiatric symptoms. Early signs often manifest in adulthood, typically between the ages of 30 and 50, although the onset and progression can vary. Key symptoms include:
- Tremors: Uncontrollable rhythmic shaking, particularly of the hands, which can interfere with daily activities.
- Ataxia: Loss of full control of bodily movements, leading to unsteady walking and difficulty with fine motor tasks.
- Dysarthria: Slurred or slow speech that can be difficult to understand.
- Cognitive decline: Problems with memory, planning, and decision-making.
- Psychiatric symptoms: Depression, anxiety, and personality changes are not uncommon.
As the disease progresses, symptoms tend to worsen, leading to increased disability. Early diagnosis and management are crucial to improving the quality of life for individuals with SCA-12.
PPP2R2B Gene Mutation Test for SCA-12
To confirm a diagnosis of SCA-12, a genetic test for the PPP2R2B gene mutation is essential. This test involves analyzing the patient’s DNA to look for the specific mutation associated with the condition. It is a critical step for families with a history of SCA-12, as it can help in understanding the risk for future generations.
DNA Labs UAE offers a comprehensive SCA-12 Spinocerebellar Ataxia PPP2R2B Gene Mutation Test designed to accurately identify the presence of the mutation. The test is available at a cost of 590 AED, making it accessible for individuals seeking confirmation of the diagnosis or understanding their genetic risk.
Why Choose DNA Labs UAE for Your Testing Needs?
DNA Labs UAE is at the forefront of genetic testing, providing a wide range of services to meet the needs of individuals and families. With state-of-the-art technology and a team of expert geneticists, the lab ensures accurate and reliable results. Choosing DNA Labs UAE for your SCA-12 testing needs means benefiting from:
- Comprehensive genetic analysis using the latest technology.
- Confidential handling of all personal and medical information.
- Support from a knowledgeable team ready to answer your questions.
- Competitive pricing, with the SCA-12 test offered at 590 AED.
Understanding your genetic makeup can be a powerful tool in managing your health and planning for the future. If you or a family member are experiencing symptoms of SCA-12 or have a family history of the condition, consider the PPP2R2B gene mutation test. Visit DNA Labs UAE today to learn more about how this test can help you take control of your health.
