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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.

Medically reviewed by

Dr. 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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Dr. Abhishek Juneja
Dr. Abhishek Juneja

Neurology

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