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. It is a genetically heterogeneous disorder caused by mutation in different genes.Type 1 Episodic ataxia (EA1) is characterized by attacks of generalized ataxia induced by emotion or stress, with myokymia both during and between attacks. This disorder is also known as Episodic ataxia with myokymia (EAM), Hereditary paroxysmal ataxia with neuromyotonia and Isaacs-Mertens syndrome. Onset of EA1 occurs during early childhood to adolescence and persists throughout life.

PreTest Information

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

Detail Description

Episodic Ataxia Type 1 Hotspot Test

Episodic Ataxia Type 1 (EA1) is a rare genetic disorder that affects the nervous system. It is characterized by episodes of uncoordinated movement, tremors, and dizziness. EA1 is caused by mutations in the KCNA1 gene, which provides instructions for making a protein that helps regulate the flow of potassium ions in nerve cells.

Symptoms of Episodic Ataxia Type 1

The symptoms of EA1 can vary in severity and frequency. Episodes of symptoms typically last from seconds to minutes and can be triggered by stress, fatigue, or exercise. Common symptoms include:

• Uncoordinated movement
• Tremors
• Dizziness
• Slurred speech
• Double vision

Diagnosis of Episodic Ataxia Type 1

EA1 can be diagnosed through genetic testing, which looks for mutations in the KCNA1 gene. A blood sample is taken from the patient and sent to a laboratory for analysis. If a mutation is found, the patient is diagnosed with EA1.

Episodic Ataxia Type 1 Hotspot Test Cost

The cost of the Episodic Ataxia Type 1 Hotspot Test at DNA Labs India is INR 11,500. This includes genetic counseling, sample collection, and analysis of the KCNA1 gene for mutations.

Conclusion

If you or someone you know is experiencing symptoms of EA1, it is important to seek medical attention. The Episodic Ataxia Type 1 Hotspot Test at DNA Labs India can provide a diagnosis and help guide treatment options. Contact us to schedule an appointment today.