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Ataxia - Causes, Types, Symptoms, Diagnosis, and Treatment

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Ataxia - Causes, Types, Symptoms, Diagnosis, and Treatment

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Ataxia refers to a set of conditions that impact balance, coordination, and speech. Read below to learn more about the disease.

Written by

Dr. Shikha

Medically reviewed by

Dr. Abhishek Juneja

Published At August 3, 2022
Reviewed AtMarch 2, 2023

What Is Ataxia?

Ataxia refers to a lack of coordination. Muscle control in the arms and legs is lost in those with ataxia, which can cause problems with voluntary motions such as balance, coordination, and walking. Ataxia is a symptom of an underlying illness that affects multiple movements such as the movement of fingers, arms, hands, legs, body, and voice. It can also cause problems with speech, eye movement, and swallowing.

What Causes Ataxia?

Ataxia is caused by damage, degeneration, or loss of nerve cells in the cerebellum, the region of the brain that controls muscular coordination. The cerebellum is made up of two folds of tissue near the brainstem at the base of the brain, and this part of the brain is responsible for balance, eye movements, swallowing, and communication.

Ataxia can be caused by diseases that affect the spinal cord and peripheral nerves that connect the cerebellum to the muscles. The following are some of the causes of ataxia:

  • External factors such as trauma, vitamin deficiencies, alcohol or drug exposure, infections, malignancies, autoimmune diseases, thyroid problems, and stroke can cause acquired ataxia.

  • Genetic ataxia is caused by a defective gene that is passed down through the generations. A dominant gene received from one parent (autosomal dominant disease) or a recessive gene from each parent can cause genetic ataxia (autosomal recessive disorder). It is possible that neither parent has the condition (silent mutation) in the latter scenario; therefore, there is no evident family history.

  • Idiopathic ataxia is when medical professionals are unable to determine any genetic mutation, illness, injury, or other causes.

What Are the Different Types of Ataxia?

Ataxia comes in a variety of forms. The classification is determined by the symptoms and the cause of their emergence. Knowing the type can assist doctors in assessing the severity of the problem and developing a treatment plan.

  • Friedreich's Ataxia: The most frequent type of hereditary ataxia is Friedreich's ataxia. People with Friedreich's ataxia have tight muscles and gradually lose strength and feeling in their arms and legs, in addition to severe movement issues. This type of ataxia is frequently associated with a heart disease that weakens the heart muscle (hypertrophic cardiomyopathy). It usually appears between the ages of 5 and 15.

  • Ataxia Telangiectasia: It is an inherited disorder also known as Louis-Bar Syndrome. It is more common in newborns and young children. The presence of enlarged (dilated) blood vessels known as telangiectasias in the eyes and on the skin of the face is a common symptom of this form of ataxia. Symptoms of ataxia-telangiectasia in children include difficulty walking, synchronizing motions, gazing from side to side, and difficulty communicating. Ataxia-telangiectasia can weaken the immune system. Other ailments, including infections and malignancies, are more common in people with the syndrome.

  • Multiple System Atrophy: It is a type of parkinsonism that affects movement and the part of your nervous system that controls involuntary body processes (autonomic nervous system). Blood pressure regulation and urine control are examples of these functions. Multiple system atrophy is characterized by difficulties in coordinating movements, a quick drop in blood pressure when you stand up, difficulty urinating, and, in men, erectile dysfunction. It is more common in people over the age of 30. However, 54 years is the average age at which symptoms appear.

  • Episodic Ataxia: People with episodic ataxia experience periodic mobility and balance problems. These episodes can occur several times each day or perhaps once or twice per year. A person can acquire episodic ataxia at any age. Stress, medications, alcohol, illness, and physical activity are all factors that contribute to it. There are seven varieties of episodic ataxia, each with its own set of symptoms, such as dizziness, headaches, hazy vision, nausea, and vomiting, in addition to trouble moving.

  • Spinocerebellar Ataxia: Spinocerebellar ataxia is genetic ataxia that is divided into hundreds of different varieties based on the accompanying features other than ataxia. Aside from the usual movement and balance issues, patients with ataxia often develop weakness and lack of sensation, and some forms cause problems with eye movements. Spinocerebellar ataxia symptoms might appear at any age. However, it usually takes longer to progress than other types of ataxia.

What Are the Symptoms of Ataxia?

Ataxia can develop gradually or appear suddenly. Ataxia is a symptom of a variety of neurological conditions that can lead to:

  • Impaired balance and a tendency to stumble.

  • Difficulty in executing fine motor skills, such as eating, writing, or buttoning a shirt.

  • Slurred speech.

  • Nystagmus, which means involuntary back-and-forth eye motions and other vision problems.

  • Muscle tremors.

  • Difficulty in swallowing.

How Is Ataxia Diagnosed?

When diagnosing ataxia, doctors investigate a variety of factors. To identify if you have ataxia and, if so, what type, a physical examination is performed by a medical professional. Medical and family history is also obtained to identify the disease.

Other tests may be used by doctors to determine the etiology and classification of ataxia. These are some of them:

  • Magnetic Resonance Imaging (MRI): An MRI is a type of imaging exam that allows doctors to see your brain in order to figure out what is causing your ataxia.

  • Blood Tests: Help establish whether the condition is caused by an underlying cause such as a stroke, tumor, or infection.

  • Genetic Testing: It can help confirm hereditary ataxia.

What Is the Treatment for Ataxia?

Hereditary ataxia has no known cure. However, some therapies can help with the symptoms. The treatment is determined by the symptoms of each individual, and the goal of treatment is to enhance comfort and mobility by managing symptoms. If ataxia is caused by a stroke, a deficiency in vitamins, or exposure to a harmful substance or toxin, treatment is tailored to those conditions.

The use of supplementary adaptive equipment to allow the person to keep as much independence as possible is the most common treatment for loss of coordination or imbalance. A cane, crutches, walker, or wheelchair are examples of these devices. Physical therapy, speech therapy, and medications for symptoms like tremors, stiffness, depression, spasticity, and sleep difficulties may all be beneficial.

Conclusion:

People with ataxia have a wide range of outcomes depending on the type and underlying etiology. The majority of patients with ataxia experience symptoms that can degrade over time. In order to reduce symptoms and improve quality of life, treatment is required. In some cases, doctors can utilize medicine to treat the underlying cause of ataxia. Their symptoms may improve over time if they receive adequate treatment. The hunt for a cure for ataxia is still ongoing.

Frequently Asked Questions

1.

What Causes Ataxia?

Ataxia occurs as a result of damage to the cells in the cerebellum, and it includes
Infections.
Vitamin deficiencies.
Specific medications (Benzodiazepines, Phenytoin, etc.).
Genetic disorders.
Head trauma.
Autoimmune diseases (the disorder that occurs when the body starts attacking or fighting against its own healthy cells), etc.

2.

Can Drugs Cause Ataxia?

Ataxia can occur as a side effect of certain drugs, which include:
Phenobarbital.
Benzodiazepine.
Phenytoin and other antiepileptic drugs.
Drugs used in chemotherapy.

3.

Which Signs Indicate Ataxia?

The following signs indicate the presence of ataxia:
Trouble balancing.
Speech problems.
Involuntary eye movements.
Swallowing difficulties.
Unsteady gait.

4.

Which Is the Best Option to Treat Ataxia?

Ataxia is treated based on the underlying cause. A specific type of ataxia resolves independently when the causative factor is treated. While others require supportive treatment like:
Medications to treat viral and bacterial infections.
Vitamin supplements.
Physical and speech therapy.
Avoid trigger factors (alcohol, drugs, stress, etc.).
Supplementary adaptive devices (walkers, crutches, etc.) for support.

5.

What Are the Symptoms of Ataxia?

The initial and late symptoms of ataxia are listed below:
Speech difficulties and becomes slurred in later stages.
Balance and coordination problems.
Trouble performing motor activities.
Swallowing difficulties.
Improper gait.

6.

Which Vitamin Can I Take for Ataxia?

In many individuals, ataxia may arise as a result of a deficiency of vitamin E. In addition, an adequate amount of vitamin E is required in the body for proper motor function. Due to vitamin E deficiency, several neurologic symptoms like poor coordination, loss of sensation, speech difficulties, etc. Therefore, taking vitamin E supplements in such cases may reduce the symptoms and are found to be effective in improving the condition.

7.

Can Caffeine Cause Ataxia?

The several symptoms of ataxia may occur due to various underlying causes. However, certain factors like stress, caffeine, and specific medications also trigger the development of ataxia. Prolonged intake of caffeine may lead to loss of motor skills and problems with balance and coordination. Therefore, removing these triggering factors, especially caffeine, may help in disease improvement.

8.

Is Ataxia Permanent?

The severity and cure of ataxia depend on the underlying cause. In case of triggering factors or other infections (viral or bacterial) causing ataxia, then it can be entirely treated by removing the triggering elements. However, if ataxia arises due to genetic mutation and it is hereditary, then there is no cure for it, and it remains permanent. In such cases, treatment focuses primarily on providing symptomatic relief.

9.

Does Walking Help With Ataxia?

Individuals who are affected by ataxia may have issues with balance and walking. Therefore several exercises, such as floor touches, arm raise, gentle bounce, forward reach, etc., may improve balance and aid in walking.  Hence, following regular stretches and exercises may improve walking and decreases problems with balancing.

10.

What Is the Most Common Form of Ataxia?

Several forms of ataxia occur due to various factors. One of the common forms among them is Friedreich’s ataxia. According to reports, the disease affects one in 50,000 individuals and is hereditary ataxia. Therefore, the affected individual may develop the symptoms of ataxia less or older than 25 years of age. In addition, this type of ataxia is not entirely treatable, and supportive therapy can be given.

11.

How to Stop the Development of Ataxia?

The development and symptoms of ataxia can be controlled with the following:
Vitamin E supplements.
Drugs like Acetazolamide.
Avoiding factors like caffeine and stress triggers episodes of ataxia.

12.

Can Ataxia Be Diagnosed With an MRI?

Ataxia can be diagnosed with genetic testing and imaging modalities like MRI (magnetic resonance imaging). In addition, if ataxia arises due to any tumor or clot in the cerebellar region of the brain, then an MRI would help identify it. For ataxia that occurs as a result of other causes, the MRI images show changes (shrinkage) in the cerebellum.

13.

Does Ataxia Heal on Its Own?

Mostly, ataxia may occur due to genetic changes, which do not resolve completely. Therefore, the doctor might suggest medication and other supplementary devices to manage ataxia. In different types of ataxia are triggered by factors like infection, toxins, stress, and drugs. In such cases, removing those factors may help in the healing of ataxia heals without any specific treatment.

14.

Is Ataxia a Type of Dementia?

Ataxia is not a type of dementia, but a specific type known as spinocerebellar ataxia is related to dementia. Studies and reports suggest that during the later stages of spinocerebellar ataxia, the patient may develop dementia. During this, the patient may lack the ability to think and perform certain activities.

15.

Can I Take B12 to Manage Ataxia?

When there are symptoms of ataxia, it is crucial to evaluate its cause. Identifying the cause and treating it may also help in reducing its symptoms. Likewise, when ataxia occurs due to vitamin deficiency, then supplements of vitamin B12 might greatly help in improving the condition. Otherwise, vitamin B 12 is also suggested for other types of ataxia for symptomatic relief.

16.

Does Ataxia Progress Fast?

Yes, the symptoms of ataxia may progress rapidly over time. Therefore, it is essential to identify the cause and triggering factors, and treatment is required at the initial stages to reduce its progression. In addition, rapid progression also indicates a serious underlying cause that requires immediate medical attention. Supplements of vitamin E and B12 may help in decreasing the disease progression.
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Dr. Abhishek Juneja
Dr. Abhishek Juneja

Neurology

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