Symptoms of SACS Gene Spastic Ataxia Charlevoix-Saguenay Type Genetic Test
Spastic Ataxia Charlevoix-Saguenay (ARSACS) is a rare, neurodegenerative disorder characterized by a wide range of clinical symptoms. The condition is primarily caused by mutations in the SACS gene, which plays a crucial role in the functioning of neurons. Understanding the symptoms of ARSACS is crucial for early diagnosis and management of the condition. DNA Labs UAE offers a comprehensive genetic test for the SACS gene mutation, aiding in the diagnosis of this condition.
Key Symptoms of ARSACS
ARSACS presents a variety of symptoms that typically begin in early childhood, although their severity and onset can vary widely among individuals. Key symptoms include:
- Ataxia: This is the most common symptom, characterized by a lack of muscle coordination affecting speech, eye movements, and the ability to swallow.
- Spasticity: Individuals may experience increased muscle tone, leading to stiffness and spasms, particularly in the legs.
- Peripheral Neuropathy: This involves damage to the peripheral nerves, resulting in weakness, numbness, and pain usually in the hands and feet.
- Visual Problems: Many people with ARSACS develop difficulties with their vision, including nystagmus (rapid involuntary movements of the eyes), strabismus (crossed eyes), and progressive vision loss.
Other symptoms may include difficulty with balance and coordination, muscle wasting, and intellectual disability, although the latter is less common. It’s important to note that the severity and combination of these symptoms can vary significantly among affected individuals.
Importance of Genetic Testing for ARSACS
Genetic testing for the SACS gene mutation is vital for confirming a diagnosis of ARSACS. This test is particularly important for individuals showing the symptoms described above, as well as for families with a history of the condition. Early diagnosis through genetic testing can enable better management of the symptoms, allow for genetic counseling, and inform family planning decisions.
DNA Labs UAE Genetic Test for ARSACS
DNA Labs UAE offers a specialized genetic test for the SACS gene mutation, aimed at individuals exhibiting symptoms of ARSACS or those with a family history of the condition. The test cost is 4400 AED, and it provides a comprehensive analysis of the SACS gene to identify mutations associated with ARSACS. Results from this test can provide invaluable information for diagnosis, treatment planning, and genetic counseling.
For more information on the SACS gene spastic ataxia Charlevoix-Saguenay type genetic test and to book your test, please visit DNA Labs UAE.
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