What causes episodic ataxia type 1?
Episodic ataxia type 1 is caused by a mutation in a potassium ion channel. This channel usually permits electrical signaling in nerve cells, and these signals may become abnormal when the channel is changed by a genetic mutation. The easiest way to test for EA1 is to get genetic testing.
What are the symptoms of episodic ataxia?
People with episodic ataxia have recurrent episodes of poor coordination and balance (ataxia). During these episodes, many people also experience dizziness (vertigo), nausea and vomiting, migraine headaches, blurred or double vision, slurred speech, and ringing in the ears (tinnitus).
Is episodic ataxia type 2 progressive?
EA-2 (Episodic ataxia, type 2) — mutation in CACNA1 According to Baloh and others (1997), EA2 is characterized by a progressive ataxia with interictal rebound nystagmus evoked by gaze, as well as downbeating nystagmus. At least 21 distinct CACNA1A mutations have been identified in EA2.
Does episodic ataxia go away?
There’s no cure for any type of episodic ataxia. Though EA is a chronic condition, it doesn’t affect life expectancy. With time, symptoms sometimes go away on their own.
How serious is ataxia?
Life expectancy is generally shorter than normal for people with hereditary ataxia, although some people can live well into their 50s, 60s or beyond. In more severe cases, the condition can be fatal in childhood or early adulthood. For acquired ataxia, the outlook depends on the underlying cause.
What causes truncal ataxia?
Truncal ataxia is different from appendicular ataxia….
| Truncal ataxia | |
|---|---|
| Symptoms | “drunken sailor” gait characterised by uncertain starts and stops, falling |
| Causes | Spinocerebellar Ataxia (Lesion in Flocculonodular Lobe OR Vestibulo-cerebellum) |
Can ataxia symptoms come and go?
Symptoms can be sudden and brief (acute) or can occur slowly and be long-lasting (chronic). Cerebellar ataxia can come and go or get progressively worse over time.
How does acetazolamide work in episodic ataxia?
Acetazolamide has been used to reduce the number of attacks in patients with episodic ataxia type 2 (EA 2), presumably by inhibiting carbonic anhydrase, which results in brain acidosis and reduction of brain lactate and pyruvate levels.
Is ataxia similar to MS?
Ataxia is common in MS but is also seen in several other conditions including diabetic polyneuropathy, acute transverse myelitis, vacuolar myelopathy, tumor or cord compression and hereditary forms of ataxia.