Episodic Ataxia Type 2 (EA2)

Background

Episodic Ataxia Type 2 (EA2) is a rare genetic neurological disorder that causes episodes of imbalance, vertigo, and poor coordination. Episodes may last from hours to days and can be triggered by stress, exercise, or caffeine.

Causes

EA2 is caused by mutations in the CACNA1A gene, affecting calcium channels in the brain. It is an inherited condition that follows an autosomal dominant pattern, meaning many family members will demonstrate symptoms.

Treatment

Treatment includes medications such as acetazolamide or 4-aminopyridine to reduce attack frequency. Lifestyle modifications, including stress management and trigger avoidance, are also recommended.