Short Description

Episodic ataxia (EA) is an autosomal dominant neurologic condition affecting less than 1 in 100,000 people. It is characterized by spells of incoordination and imbalance (ataxia) with or without myokymia. Type 2 Episodic ataxia (EA2) is characterized by acetazolamide-responsive attacks of ataxia with or without migraine. Patients with EA2 may also present with progressive cerebellar atrophy, nystagmus, vertigo, visual disturbances and dysarthria. These symptoms last from hours to days, in contrast with EA1, which lasts from seconds to minutes. Like EA1, attacks can be precipitated by emotional or physical stress, but also by coffee and alcohol. EA2 is also referred to as Episodic ataxia with nystagmus, Hereditary paroxysmal cerebellopathy, Familial paroxysmal ataxia and Acetazolamide-responsive hereditary paroxysmal cerebellar ataxia (AHPCA).

PreTest Information

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Detail Description

Episodic Ataxia Type 2 Hotspot Test- Symptoms, Diagnosis, and Cost in India

Episodic Ataxia Type 2 (EA2) is a rare genetic disorder that affects the nervous system. It is characterized by recurrent episodes of imbalance, dizziness, and difficulty in coordination. The condition is caused by mutations in the CACNA1A gene, which provides instructions for making a protein that helps control the flow of calcium ions into cells. This disorder is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene from either parent to develop the condition.

Symptoms of Episodic Ataxia Type 2

The symptoms of EA2 usually begin in childhood or adolescence and can vary in severity and frequency. The common symptoms are:

• Episodic vertigo
• Unsteadiness
• Difficulty in walking
• Slurred speech
• Double vision
• Hand tremors
• Migraine headaches
• Difficulty in swallowing

The episodes can last from minutes to hours and can occur spontaneously or be triggered by stress, alcohol, or exercise.

Diagnosis of Episodic Ataxia Type 2

Diagnosis of EA2 can be challenging because the symptoms are similar to other neurological disorders. A complete medical history, physical examination, and neurological evaluation are necessary to rule out other conditions. Genetic testing is the most reliable way to confirm the diagnosis of EA2. The Episodic Ataxia Type 2 Hotspot Test looks for the specific genetic mutation in the CACNA1A gene that causes EA2. The test is done on a blood sample and is highly accurate.

Episodic Ataxia Type 2 Hotspot Test Cost in India

DNA Labs India offers the Episodic Ataxia Type 2 Hotspot Test at a cost of INR 11,500. The test is performed using state-of-the-art technology and provides accurate results. The test is available at all DNA Labs India centers across the country. The results are usually available within 10-12 working days.

Conclusion

Episodic Ataxia Type 2 is a rare genetic disorder that affects the nervous system. The symptoms of the condition are similar to other neurological disorders, making diagnosis challenging. Genetic testing is the most reliable way to confirm the diagnosis of EA2. The Episodic Ataxia Type 2 Hotspot Test is a highly accurate and reliable test that looks for the specific genetic mutation in the CACNA1A gene that causes EA2. DNA Labs India offers the test at an affordable cost of INR 11,500, making it accessible to everyone.