Spinocerebellar Ataxia Type 7 (SCA-7) is a progressive, neurodegenerative disorder characterized by a wide array of symptoms that result from a mutation in the ATXN7 gene. This mutation leads to an abnormal expansion of CAG repeats within the gene, which in turn affects the normal function of the cerebellum and other parts of the brain, causing progressive coordination and vision problems. Understanding the symptoms of SCA-7 is crucial for early diagnosis and management of the condition. DNA Labs UAE offers a comprehensive ATXN7 Gene Mutation Test for those who are at risk or show symptoms of SCA-7, priced at 590 AED.
Symptoms of SCA-7
The symptoms of SCA-7 can vary widely among affected individuals, both in terms of onset and severity. However, some common symptoms are typically observed:
- Ataxia: This is the most common symptom and refers to coordination problems that affect movement, balance, and speech. Individuals may experience difficulty walking, clumsiness, and unsteady gait.
- Visual Impairment: Progressive vision loss is a hallmark of SCA-7, caused by degeneration of the retina. Symptoms can include difficulty seeing in low light, loss of sharp vision, and eventual blindness.
- Slow Eye Movements: Affected individuals may have difficulty moving their eyes quickly or may experience involuntary eye movements.
- Muscle Weakness: As the condition progresses, muscle weakness and stiffness can occur, further impacting mobility and daily activities.
- Dysarthria: This refers to speech difficulties due to lack of muscle control, leading to slurred or slow speech that can be hard to understand.
- Difficulty Swallowing: Some individuals may experience dysphagia, which can lead to difficulties in eating and drinking.
It’s important to note that the severity and progression of these symptoms can vary widely among individuals. Some may experience a rapid progression of symptoms, while others may have a more gradual onset.
ATXN7 Gene Mutation Test at DNA Labs UAE
For individuals experiencing symptoms of SCA-7 or those with a family history of the condition, DNA Labs UAE offers a specialized ATXN7 Gene Mutation Test. This test is designed to detect the abnormal CAG repeat expansion in the ATXN7 gene, which is responsible for SCA-7. The test is priced at 590 AED and is a crucial step in confirming the diagnosis of SCA-7, enabling individuals and their healthcare providers to make informed decisions about management and treatment options.
The process of getting tested is straightforward and involves providing a DNA sample through a simple, non-invasive procedure. The results of the test not only provide a definitive diagnosis but also offer valuable information about the prognosis and possible treatment approaches.
Early diagnosis and intervention can significantly impact the management of SCA-7, helping to alleviate symptoms and improve quality of life. For more information about the ATXN7 Gene Mutation Test and to schedule your test, please visit DNA Labs UAE.
In conclusion, understanding the symptoms of SCA-7 is crucial for early diagnosis and intervention. The ATXN7 Gene Mutation Test offered by DNA Labs UAE is a valuable tool for individuals at risk or experiencing symptoms of SCA-7, providing them with the information needed to manage the condition effectively. If you or a loved one are experiencing symptoms or have a family history of SCA-7, consider reaching out to DNA Labs UAE for testing and support.