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.

PreTest Information

Duly filled Genomics Clinical information Requisition Form (Form 20) is mandatory

Detail Description

Episodic Ataxia Comprehensive Profile Hotspot Test: Symptoms, Diagnosis, and Cost

Episodic Ataxia is a rare genetic disorder that affects the nervous system. It is characterized by episodes of muscle weakness and coordination problems, which can last from a few minutes to several hours. The symptoms of Episodic Ataxia can be mild or severe, and they can vary from person to person. There are several types of Episodic Ataxia, and each one is caused by a different gene mutation.

Symptoms of Episodic Ataxia

The symptoms of Episodic Ataxia can include:

• Episodes of muscle weakness and coordination problems
• Tremors
• Slurred speech
• Double vision
• Dizziness
• Nausea
• Headaches

These symptoms can be triggered by stress, exercise, or other factors. They can also be worsened by fatigue or lack of sleep.

Diagnosis of Episodic Ataxia

Diagnosing Episodic Ataxia can be challenging because the symptoms can be similar to those of other neurological conditions. However, a genetic test can help confirm the diagnosis. The Episodic Ataxia Comprehensive Profile Hotspot Test is a genetic test that looks for mutations in the genes that are associated with Episodic Ataxia. This test can help identify the specific type of Episodic Ataxia that a person has, which can guide treatment.

Cost of Episodic Ataxia Comprehensive Profile Hotspot Test

The cost of the Episodic Ataxia Comprehensive Profile Hotspot Test in India is approximately INR 16,000. This cost may vary depending on the laboratory and location.

Conclusion

Episodic Ataxia is a rare genetic disorder that can cause episodes of muscle weakness and coordination problems. The symptoms can be mild or severe, and they can vary from person to person. The Episodic Ataxia Comprehensive Profile Hotspot Test is a genetic test that can help confirm the diagnosis and identify the specific type of Episodic Ataxia that a person has. If you are experiencing symptoms of Episodic Ataxia, it is important to speak with your doctor and consider genetic testing.

At DNA Labs India, we offer the Episodic Ataxia Comprehensive Profile Hotspot Test at an affordable cost. Our laboratory is equipped with state-of-the-art technology and staffed by experienced professionals. Contact us today to learn more about our genetic testing services.