Episodic Ataxia

What is an Episodic Ataxia?

Episodic ataxia (EA) is a neurological disorder that affects movement. At least eight varieties have been identified, all of which are hereditary but can vary in their symptoms and onset ages.

Less than 0.001 percent of people have EA, making it uncommon.

Episodes of ataxia, or poor balance and/or coordination, can last anywhere from a few seconds to many hours in people with EA. The most prevalent types are types 1 and 2.

What are the Causes of Episodic Ataxia?

Scientists believe that episodic ataxia is caused by gene mutations. Certain varieties of EA are caused by gene alterations that experts have uncovered. Other genetic causes of EA are still being investigated. Diagnosing episodic ataxia might be challenging.

What Signs and Symptoms are present in Episodic Ataxia?

Episodes of EA symptoms can last a few seconds, minutes, or hours. They could happen many times a day or as infrequently as once a year.

Ataxia, or poor balance and coordination, is a hallmark of episodes in all forms of EA. Other than that, EA is linked to a variety of symptoms that seem to change greatly amongst families. Members of the same family may also experience different symptoms.

Other symptoms that could be present include:

• Blurred or double vision
• dizziness
• involuntary movements
• migraine headaches
• Muscle twitching (myokymia)
• Muscle spasms (myotonia)
• muscle cramps
• muscle weakness
• nausea and vomiting
• Repetitive eye movements (nystagmus)
• ringing in the ears (tinnitus)
• seizures
• slurred speech (dysarthria)
• temporary paralysis on one side (hemiplegia)
• tremors
• vertigo

External causes can also cause EA episodes to occur. Known EA triggers include the following:

• alcohol
• caffeine
• diet
• fatigue
• hormonal changes
• illness, especially with a fever
• medication
• physical activity
• stress

What are the Different types of Episodic Ataxia Syndrome?

Type 1 episodic ataxia

Early childhood is when symptoms of episodic ataxia type 1 (EA1) usually manifest. Ataxia in children with EA1 will occur in short bursts, lasting a few seconds to a few minutes. Up to 30 of these episodes may happen in a single day. They could be caused by external elements like:

• fatigue
• caffeine
• emotional or physical stress

Muscle twitch, or myokymia, is more likely to happen during or in between ataxia episodes in people with EA1. Speaking difficulties, involuntary motions, and tremors or muscle weakness during episodes have also been observed in people with EA1.

Additionally, periods of muscle stiffness and cramping in the head, arms, or legs are possible in people with EA1. Some EA1 patients also have epilepsy.

The KCNA1 gene, which contains the instructions to produce several proteins necessary for a potassium channel in the brain, is mutated in EA1. Nerve cells use potassium channels to produce and transmit electrical signals. These signals could be interfered with by a genetic mutation, resulting in ataxia and other symptoms.

Children inherit this mutation from their parents. Because it is autosomal dominant, each child has a 50% chance of inheriting the disorder if one parent has it.

Type 2 episodic ataxia

The onset of episodic ataxia type 2 (EA2) typically occurs in early adulthood or youth. Hour-long ataxia episodes are its defining feature. These episodes, which range from one or two per year to three to four per week, are less common than those of EA1. As with other forms of EA, outside variables like the following might cause episodes:

• stress
• caffeine
• alcohol
• medication
• fever
• physical exertion

Individuals with EA2 may also have other episodic symptoms, like:

• difficulty speaking
• double vision
• ringing in the ears

Temporary paralysis and muscle tremors are other symptoms that have been observed. Nystagmus, or repetitive eye movements, can happen in between episodes. Migraine headaches can also occur in people with EA2.

EA2 is caused by an autosomal dominant genetic mutation that is inherited from parents to children, just as EA1. The gene that is impacted in this instance is CACNA1A, which regulates a calcium channel.

Spinocerebellar ataxia type 6 (SCA6), progressive ataxia, and familiar hemiplegic migraine type 1 (FHM1) are among the disorders linked to this identical gene.

Which other forms of episodic ataxia exist?

There are very few other forms of EA. Only types 1 and 2 have been found in many family lines, as far as we are aware. Little is therefore known about the others. The data that follows is based on reports from single-family households.

Type 3 episodic ataxia (EA3): This condition is linked to migraine headaches, vertigo, and tinnitus. The normal episode lasts a few minutes.

Type 4 episodic ataxia (EA4): Two North Carolina family members were found to have episodic ataxia type 4 (EA4), which is linked to late-onset vertigo. The average EA4 attack lasts for a few hours.

Type 5 episodic ataxia (EA5): Symptoms of episodic ataxia type 5 (EA5) are comparable to those of EA2. It isn’t caused by the same genetic mutation, though.

Type 6 episodic ataxia (EA6): One youngster has been diagnosed with episodic ataxia type 6 (EA6), which is characterized by seizures and transient paralysis of one side.

Episodic Ataxia Type 7 (EA7): Over the course of four generations, seven members of a single family have been documented to have EA7. Similar to EA2, attacks last for hours and began in infancy or early adulthood.

Type 8 episodic ataxia (EA8): Throughout three generations, 13 members of an Irish family have been found to have episodic ataxia type 8 (EA8). When the participants were learning to walk, ataxia initially manifested. Additional symptoms included weakness, slurred speech, and unsteadiness when walking.

Are there other names for Episodic Ataxia?

EA syndrome or episodic ataxia syndrome are other names for episodic ataxia.

Who is susceptible to Episodic Ataxia?

Episodic ataxia may develop in people who have mutations in specific genes inherited from their parents. However, certain gene mutations occur spontaneously and without a family history. There are differences in the age at which symptoms of episodic ataxia appear.

How is Episodic Ataxia diagnosed?

A doctor’s physical examination is necessary to diagnose episodic ataxia.

You might need to see a neurologist for more specialized testing, including imaging tests like an MRI, if ataxia runs in your family or if you have symptoms that point to it.

Genetic testing can sometimes confirm the diagnosis. This diagnosis, however, will be made based on your symptoms and the elimination of alternative explanations for kinds of episodic ataxia that do not have a known genetic mutation.

Which conditions are mistaken for ataxia?

There are numerous causes of ataxia in general. Because of this, several symptoms associated with episodic ataxia may indicate other illnesses, including:

• Several forms of ataxia, including acquired ataxia
• stroke
• multiple sclerosis
• autoimmune disorders
• brain tumor
• epilepsy
• nutrient deficiency
• migraine
• dyskinesia

Consequently, misdiagnosis of episodic ataxia is relatively uncommon.

What is the Treatment for Episodic Ataxia?

A neurological examination, electromyography (EMG), and genetic testing are among the techniques used to identify EA.

EA does not have a specific treatment. Doctors frequently prescribe drugs used to treat other disorders to manage it. For example, anticonvulsant/antiseizure drugs like valproic acid and carbamazepine are commonly used to treat EA.

Although it works better for EA2, another medication that is frequently used to treat EA1 and EA2 is the diuretic acetazolamide.

Other medications used in EA2 include the potassium channel blocker dalfampridine (4-aminopyridine), which is commonly used to help persons with multiple sclerosis (MS) walk more easily, and the calcium channel blocker flunarizine, which aids in blood vessel widening.

Additional medications may be prescribed by your physician or neurologist to address various EA symptoms. Amifampridine (3,4-diaminopyridine), for example, has shown promise in the treatment of nystagmus.

To increase strength and mobility, physical therapy may occasionally be utilized in conjunction with medicine. To prevent triggers and preserve general health, people with ataxia may also think about making dietary and lifestyle adjustments.

What is the Prevalence of Episodic Ataxia?

Episodic ataxia occurs very rarely. According to experts, it affects roughly one person out of every 100,000.

What are the effects of episodic ataxia on me?

For a few minutes or several hours, you may experience difficulty walking, balancing, or moving if you have episodic ataxia. These episodes may occur daily or only infrequently.

What Foods and Beverages should I avoid if I have Episodic Ataxia?

Discuss with your doctor any foods or beverages, such as coffee, that may exacerbate ataxia episodes. The effects of specific foods and beverages on EA are still being investigated.

What is the Best way to treat Episodic Ataxia?

Your doctor can assist you. Generally speaking, it’s critical to:

• Consume a nutritious diet.
• Observe the exercise guidelines provided by your healthcare physician.
• Get enough rest.

How can I lower my chance of developing Episodic Ataxia?

The disorder known as episodic ataxia is inherited. Nothing that anyone did was the cause of EA. There is nothing you can do to lower or avoid the risk of EA, whether these mutations are inherited or occur naturally.

What is the Duration of my Episodic Ataxia?

Episodic ataxia typically lasts a lifetime. In order to live a healthy life, your healthcare provider is your partner. Discuss symptom management and locating support with your healthcare physician.

What is the Prognosis for Episodic Ataxia?

The life expectancy of people with episodic ataxia is the same as that of the general population.

As you age, EA symptoms might occasionally go away. However, this isn’t always true.

With medicine, many EA sufferers can manage their symptoms. Others use emotional support and physical treatment to learn how to control their symptoms.

If I have Episodic Ataxia, how should I care for myself?

For all appointments, see your healthcare provider. Observe their dietary and exercise recommendations. Inform your healthcare practitioner if you develop any new or concerning symptoms.

Is Episodic Ataxia considered a disability?

You might be eligible for disability benefits if your episodic ataxia symptoms prevent you from working. Discuss if your symptoms and condition qualify for disability payments from the Social Security Administration with your healthcare physician.

How long does someone with Episodic Ataxia expect to live?

All forms of episodic ataxia are incurable. Despite being a chronic illness, EA has little effect on life expectancy. Sometimes, the symptoms go away on their own with time. Treatment can frequently lessen or even eliminate persistent symptoms.

Discuss your symptoms with your physician. They can recommend beneficial therapies that support you in maintaining a high standard of living.

FAQs

References

• Episodic ataxia. (2025, March 19). Cleveland Clinic. https://my.clevelandclinic.org/health/diseases/22794-episodic-ataxia
• Vandergriendt, C. (2024, February 21). What is episodic ataxia? Healthline. https://www.healthline.com/health/episodic-ataxia#outlook