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Spinocerebellar Ataxias

Spinocerebellar ataxias (SCAs) are a diverse group of rare, genetic neurodegenerative disorders characterized by slowly progressive incoordination of gait, and often associated with poor coordination of hands, speech, and eye movements. This guide specifically discusses SCA types 1, 2, 3, 6, 7, 12, and 17, each caused by a mutation in a specific gene. Genetic testing can confirm the diagnosis and the specific type of SCA.


  • Test NameSpinocerebellar Ataxias (SCA1, SCA2, SCA3, SCA6, SCA7, SCA12, and SCA17)
  • Sample TypeBlood
  • Preparations RequiredNo specific preparations, dietary restrictions, or fasting is necessary before providing a blood sample for this test.
  • Report Time9 days

The understanding of your SCA diagnosis can significantly aid in the management of the disease, decision-making regarding family planning, and provide crucial information for other family members about their potential risk.

Home Sample Collection Process

1
Book your convenient slot
Book your convenient slot
2
Sample Collection by Phlebotomist
Sample Collection by Phlebotomist
3
Reporting of the sample at lab
Reporting of the sample at lab
4
Download Reports
Download Reports
Frequently Asked Questions

Getting tested for SCAs is vital if there is a family history or if an individual exhibits symptoms such as lack of coordination, balance problems, speech difficulties, or slow eye movements. Early diagnosis can help manage symptoms and can provide important information about the risk to other family members.

No, fasting is not required for the SCA genetic test.

No specific preparation is needed for the SCA genetic test.

If you have a family history of SCAs or are experiencing symptoms like impaired coordination, balance issues, slow eye movement, speech problems, or vision loss, it might be appropriate to consider this test.

The SCA genetic test can identify the specific mutation associated with each type of SCA, aiding in the diagnosis and management of the condition.

The SCA genetic test is typically a one-time procedure. However, regular check-ups are necessary to monitor disease progression and manage symptoms.

In a genetic test, a normal result indicates the absence of the specific gene mutation associated with the tested type of SCA.

There are no specific precautions required for this test. However, given the genetic implications of the results, genetic counseling might be beneficial before and after testing.

The SCA genetic test is generally not influenced by external factors. However, potential laboratory errors or issues with the blood sample could potentially affect the results.

If your SCA test results are positive, you should consult a neurologist or a genetic counselor.

A positive test result confirms the diagnosis of the specific type of SCA. An appropriate symptom management plan, which might include physical therapy, speech therapy, or other interventions, can be devised. You may also find genetic counseling beneficial.

No, the SCA genetic test requires a blood sample, which should be collected by a healthcare professional and processed in a specialized lab.

The SCA test involves a standard blood draw, so risks are minimal. However, some people might experience slight pain, bruising, or infection at the injection site.

A negative test result means you do not have the specific gene mutation associated with the tested type of SCA. However, it does not rule out other types of ataxia or similar disorders.

The SCA genetic test is highly reliable and accurate when conducted in a credible lab. However, it's always important to discuss your results with a healthcare professional or genetic counselor.

Navigating life with an SCA can be challenging, but understanding your diagnosis and how to manage your symptoms can make a big difference. Regular follow-ups with your healthcare provider can ensure optimal management of the condition. It's essential to remember that while there's currently no cure for SCAs, ongoing research and development are actively exploring potential treatments. With resilience and the right support, individuals with SCAs can lead fulfilling lives.

SCAs are inherited in an autosomal dominant pattern. This means an affected person has a 50% chance of passing the mutation to their offspring.

Common symptoms include difficulty with coordination and balance, slow eye movement, speech problems, and in some types, vision loss.

Currently, there is no cure for SCAs, but treatment can help manage symptoms and improve quality of life.

Although lifestyle changes cannot cure SCAs, healthy habits like regular exercise within personal limits, maintaining a balanced diet, and avoiding stress and alcohol can improve overall health and help manage symptoms.

Life expectancy varies depending on the type and severity of SCA, as well as the age of onset. Regular follow-up and symptomatic management can improve the quality of life.

Since SCAs are inherited in an autosomal dominant manner, they typically do not skip generations. However, symptoms can vary greatly, even within the same family, so a parent might be only mildly affected and diagnosed later in life.

Yes, a person with an SCA mutation has a 50% chance of having a child who does not inherit the mutation. Genetic counseling is recommended for anyone with an SCA mutation considering starting a family.

Yes, several research projects worldwide aim to better understand SCAs and find more effective treatments and potentially a cure.

Yes, it is possible to have an SCA mutation and not develop symptoms. This is known as reduced penetrance.

Yes, other types of ataxias and some other neurological disorders can present similar symptoms, emphasizing the importance of genetic testing for an accurate diagnosis.

Understanding the implications of an SCA diagnosis is crucial for managing the condition and making informed decisions about future planning. Active and ongoing research on SCAs brings hope for better treatments and potential cures. Despite the challenges that come with living with SCAs, it's important to remember that with the right support and care, affected individuals can lead meaningful lives. There are many resources and communities available to provide assistance and support, so remember, you're not alone on this journey.

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