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Episodic Ataxias - Causes and Treatment

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Episodic ataxia is a group of conditions affecting the nervous system that is characterized by problems related to movements and maintaining balance.

Written byDr. Shanthwani Francis

Medically reviewed byDr. Abhishek Juneja

Published At March 17, 2023
Reviewed AtJune 8, 2023

Introduction

Ataxia is a disorder in which there is a lack of coordination and poor control of muscles leading to clumsy body movements. Ataxia can cause trouble in walking, hand coordination, speech, swallowing, and eye movements. Episodic ataxia is a neurological condition characterized by repeated episodes of movement problems, lack of coordination, and poor balance.

What Is Episodic Ataxia?

Episodic ataxia is a genetic condition affecting the nervous system. This condition leads to the damage of certain nerve fibers that carry signals which are responsible for controlling movements of the body, from the brain. People affected with episodic ataxia may experience trouble in walking, movement, balance, and coordination in repeated episodes. The episodes may last for a duration of a few minutes to a few hours. Episodic ataxia can occur at any age from early childhood to adulthood.

What Are the Causes of Episodic Ataxias?

Genes are structures that contain instructions responsible for transferring biological and physical traits from parents to their children. Episodic ataxia is an inherited disorder caused due to defects in the genes. The faulty gene responsible for causing the disease is transferred from one generation to another by the family members. Generally, every individual inherits two copies (one from the father and one from the mother) of each gene from their parents. Episodic ataxia is caused due to the inheritance of one faulty gene (episodic ataxia-causing gene) from any one of the parents. Even if the parents have episodic ataxia, a child inheriting two normal copies of the gene from both parents will never develop episodic ataxia. Researchers believe that abnormalities in the genes KCNA1, CACNA1A, CACNB4, and SLC1A3 are responsible for causing episodic ataxia. Abnormalities in these genes may alter the transport of glutamate (a brain chemical) and ions inside the brain leading to overexcitement of the nerve cells which disturbs the normal communication between the cells.

What Are the Symptoms of Episodic Ataxias?

The symptoms commonly seen in people affected with episodic ataxia are as follows:

  • Loss of balance.

  • Difficulty in walking.

  • Clumsy body movements lead to frequent falls.

  • Lack of coordination.

  • Nausea (uneasiness of the stomach along with an urge to vomit).

  • Vomiting.

  • Blurred or double vision.

  • Dizziness.

  • Severe headaches that last for hours.

  • Difficulty in speaking.

  • Difficulty in swallowing.

  • Tinnitus (experiencing ringing in the ears).

  • Seizures (sudden uncontrolled disturbance in the brain).

  • Paralysis affecting a single side of the body.

  • Weakness of the muscles.

  • Twitching of the eyelid.

  • Unintentional shaking movements of the face and hands.

  • Painful tightening of the muscles.

How to Diagnose Episodic Ataxias?

The following help to diagnose episodic ataxia:

  • Medical History and Neurological Examination: The doctors take detailed notes of the medical history and family history of the patient. The doctor also enquires about the symptoms experienced by the person. The neurologist makes a thorough neurological examination by checking if the patient has any problems with vision, maintaining balance, and coordination.

  • Computed Tomography (CT) Scan: Computed tomography is an imaging test that uses X-rays, and computers to produce clear images of the soft tissues and bones in the body. CT scan of the brain may be advised to find out any abnormalities which would help in ruling out the possibility of other disorders with similar symptoms. In rare cases, the doctor may advise computed tomography of the thorax (the region between the neck and abdomen).

  • Magnetic Resonance Imaging (MRI): Magnetic resonance imaging is an imaging test that uses a computer, a large magnet, and radio waves to obtain detailed images of the structures present in the body. MRI of the brain may help to detect the presence of any abnormalities like blood clots or tumors present in the brain. MRI of the ataxia patient may show shrinkage of the cerebellum and other parts of the brain.

  • Electromyography: Electromyography is a test that is used to find out the functioning of muscles and the nerves controlling the muscles. This test is performed by inserting a needle electrode into the muscle to record the electrical activity of the muscle. Electrode stickers applied on the skin help in detecting the strength and speed of the nerve signals. Electromyography in ataxia patients may show muscle dysfunction and abnormalities in signal transmission between the nerves and muscles.

  • Lumbar Puncture: This test is performed by inserting a needle into the lower back region to obtain a sample of cerebrospinal fluid (fluid that is present within and around the brain and spinal cord). The cerebrospinal fluid is then tested in the laboratory to find out the presence of any disorders of the nervous system.

  • Genetic Testing: Genetic testing is a medical test that is used to detect abnormalities in genes, proteins, or chromosomes. Since episodic ataxia is a genetic condition, this test helps to detect the abnormality in the genes and the possibility of developing or passing on the disorder.

How Are Episodic Ataxias Treated?

There is no definitive treatment for episodic ataxia. However, the doctor may recommend a few strategies to get relief from the symptoms. They are as follows:

  • Medications: The doctor may prescribe medicines that block the nerve channels which in turn reduces the episodes of ataxia. Medications to reduce repeated uncontrolled eye movements and seizures are also given to the patient.

  • Physical Therapy: This therapy includes exercises and massages of the patient under the guidance of a trained therapist. Physical therapy helps to strengthen the muscles, improve coordination, and enhance body movements.

  • Occupational Therapy: Occupational therapists help patients to get mentally adapted to their disabilities. This therapy mainly focuses on making the patient capable of performing the day-to-day activities like eating, buttoning the shirt, and climbing stairs.

  • Speech Therapy: Speech therapy involves assessing and treating speech-related communication problems by a trained professional. Speech therapy helps in improving the clarity and fluency of words while talking. This therapy also helps people who have difficulty swallowing.

  • Adaptive Devices: Patients who have severe symptoms may require the help of walkers or hiking sticks for walking. Modified utensils may be required for patients who have severe difficulty eating.

Conclusion

Episodic ataxia is a serious genetic disorder affecting the body's movements which interferes with the daily activities of life. Even though this disorder cannot be completely cured, early diagnosis and treatment help the patients to manage the symptoms and lead a normal life. If any of the family members have been affected by this condition, genetic testing would help in diagnosing the possibility of developing this disease in a person. Hence early detection and prompt treatment are the key factors in managing episodic ataxia.

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Frequently Asked Questions

Episodic ataxia is a rare form of hereditary ataxia in which an individual encounters episodes of ataxia with no or mild symptoms during rest. Episodic ataxia causes problems in coordination and movement. A mutation in the gene associated with the involvement of calcium and potassium channel genes contributes to episodic ataxia. This condition can be triggered by factors including medicines, alcohol, caffeine, stress, physical performance, and illness.

Episodic ataxia is a rare genetic disorder where the individual has ataxia attacks in episodes. So, they have episodes of poor balance and coordination. People with episodic ataxia also experience nausea, vomiting, dizziness, migraines, slurred speech, and blurred vision. Type two episodic ataxia is the standard form of episodic ataxia where genetic mutations occur with the CACNA1A gene.

Ataxia is an umbrella term referring to neurological disorders that interfere with one’s balance, speech, and coordination. The person with ataxia has poor muscle control, resulting in clumsy voluntary movements. The significant types of ataxia are as follows:


- Cerebellar ataxia.


- Sensory ataxia.


- Vestibular ataxia.

Generally, Magnetic Resonance Imaging (MRI) helps determine the cause of ataxia. It shows the shrinkage of the cerebellum or other structures in the brain. Episodic ataxia diagnosis includes the following investigations.


- Neurological examination.


- Electromyography (EMG).


- Genetic testing.

Following an appropriate diagnosis, the doctors prescribe anticonvulsant or anti-seizure medications for people with episodic ataxia. The drug Acetazolamide is the common medication used for treating both type one and type two episodic ataxia, though it shows more efficacy in type two. Alternative medicines for episodic ataxia include Carbamazepine and Valproic acid. The clinical study proposed that the muscle relaxant Chlorzoxazone shows potential as an effective treatment for episodic ataxia type two.

The treatment for ataxia generally depends on the cause. Temporary causes of ataxia, like alcohol and stress, can be effectively treated. Other treatable ataxias include deficiency of vitamin E ataxia and episodic ataxia type two. So, major types of ataxia are treatable with effective measures and medications. While ataxia caused by neurological conditions like multiple sclerosis and cerebral palsy could be challenging to treat.

Ataxia is of many types, among which one occurs due to a deficiency of vitamin E. So, studies show that vitamin E supplementation in people helps stabilize the neurological signs, resulting in minimal improvement in cerebellar ataxia. Moreover, a form of vitamin B3 showed promising effects against a type of ataxia known as Friedreich’s ataxia. Friedrich’s ataxia is a debilitating, degenerative disorder that generally has no cure or treatment.

The early signs of ataxia are as follows:


- Poor coordination.


- Poor balance.


- Unsteady walking.


- Change in the speech.


- Difficulty swallowing.


- Nystagmus- involuntary eye movements.


- Fine motor tasks have difficulties.

Episodic ataxia is a hereditary group of neurological disorders characterized by repeated spells of ataxia and coordination problems. The episodic ataxia can last for minutes to hours. So, one encounters trouble balancing, waking, or moving for a few minutes to a few hours. During the rest period, people with episodic ataxia have no or minimal ataxia attacks.

The ataxia can be hereditary (genetic) or acquired. The life expectancy is usually less than normal for individuals with a hereditary type of ataxia. Nevertheless, the clinical findings say that some people with hereditary ataxia can live their lives well for about 50 years and older. The same condition can be potentially fatal in childhood and early stages of adulthood for most severe forms. In the case of acquired ataxia, the mortality and prognosis depend on the underlying cause.

One should follow a well-balanced and nutritious diet for neurological conditions like ataxia. Try to ingest more proteins, complex carbohydrates, and fats with the daily meal. So, one can include starchy vegetables, legumes, rice, pasta, and fruits. People with ataxia must avoid processed meats and foods with preservatives. Health experts generally advise taking plenty of fluids.

Ataxia includes several different types that can be either hereditary or acquired. People with cerebellar ataxia are known to have cognitive impairments. Moreover, they sometimes have impaired recall of recently processed information, as the cerebellum has a crucial role in certain aspects of thinking. They also need help with executive functions like decision or plan-making skills.

Ataxia is common as a symptom. But, it is not as common as a condition since it results from genetic disorders. Hence, people with ataxia encounter impaired coordination, balance, and movement. Several types of ataxia might remain potentially stable and even improve with time. But, some types of ataxia would progress over time, leading to the worsening of the condition. Such a type of ataxia could last a lifetime.

Homeopathic medicines can be beneficial and effective in the early stages of ataxia. These medicines help with the improvement of dysphagia, uncontrollable eye movements, and muscle coordination in ataxia. The homeopathic medicines for treating ataxia include Alumina, Belladonna, Conium, Causticum, Gelsemium, Agaricus, and Pulsatilla.

The individual with ataxia has problems or difficulty with balance, coordination, and motion. Physical therapy and neuromotor exercises help people with ataxia by focusing on balance and coordination. Moreover, the clinical reports say that aerobic training offers benefits for ataxia. Moreover, balance training helps to improve motor skills and physical performance.

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Dr. Abhishek Juneja from iCliniq
Dr. Abhishek Juneja

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