Ataxia – Symptoms and Causes

What Is Ataxia?

Ataxia refers to poor muscle control that results in uncoordinated movements. This condition affects several physical functions:

• Walking and balance
• Hand coordination
• Speech and swallowing
• Eye movements

The cerebellum, a region of the brain responsible for muscle coordination, is typically damaged in people with ataxia. Many different conditions can cause this damage, including:

• Genetic disorders
• Stroke
• Brain tumors
• Multiple sclerosis
• Degenerative diseases
• Alcohol misuse
• Certain medications

Treatment approaches vary based on what’s causing the ataxia.

People often use walkers or canes to help maintain independence. Regular therapy sessions—physical, occupational, and speech—combined with consistent exercise can help manage symptoms and improve quality of life.

Signs and Symptoms

People with ataxia may notice problems with movement and balance. These symptoms can appear suddenly or develop slowly over time. Ataxia can be part of several conditions that affect the nervous system.

Common symptoms include:

• Coordination problems
• Unsteady walking (often with feet spread wide apart)
• Poor balance when standing or sitting
• Difficulty with detailed hand movements (eating, writing, buttoning clothes)
• Speech changes or slurring
• Involuntary eye movements
• Swallowing difficulties

When Medical Help Is Needed

If you experience any of these symptoms and don’t have a diagnosed condition that explains them, see your healthcare provider right away:

• Sudden loss of balance
• Decreased coordination in your arms, hands, or legs
• Walking difficulties or changes in gait
• Slurred or unclear speech
• Problems swallowing food or drinks

These symptoms might indicate a serious underlying condition that needs prompt medical attention.

Causes of Ataxia

Ataxia happens when there is damage to the cerebellum or its connections. The cerebellum sits at the base of the brain and connects to the brainstem. It plays a key role in controlling balance, eye movements, swallowing, and speech.

There are three main groups of causes: acquired, degenerative, and hereditary.

Acquired causes include alcohol misuse, certain medications, toxins, vitamin imbalances, thyroid issues, stroke, multiple sclerosis, autoimmune diseases, infections, COVID-19, paraneoplastic syndromes, brain changes, head trauma, and cerebral palsy.

Degenerative causes include conditions like multiple system atrophy, which affects movements and functions like blood pressure control.

Genetic Forms of Ataxia

Hereditary ataxias pass down in families through genes. People with these conditions are often born with genetic changes that cause their bodies to make irregular proteins.

These proteins affect nerve cells mainly in the cerebellum and spinal cord, causing them to break down and die. As the disease gets worse, coordination problems increase.

A person may inherit ataxia through a dominant gene from one parent or recessive genes from both parents. Different gene changes cause different types of ataxia, most of which get worse over time.

Dominant Inherited Ataxias

Dominant inherited ataxias happen when a person gets one faulty gene from either parent. The parent with this gene usually has the condition too.

Spinocerebellar Ataxias (SCAs)

Scientists have found more than 40 different SCA genes, and they keep discovering more. While all types cause poor coordination and cerebellum damage, each type has its own specific symptoms.

Some types may also affect:

• Speech
• Eye movements
• Walking ability
• Hand coordination

Episodic Ataxia (EA)

There are eight known types of episodic ataxia, with EA1 and EA2 being the most common.

EA1 features:

• Brief attacks lasting seconds or minutes
• Triggers include stress, sudden movements, or being startled
• Often comes with muscle twitching

EA2 features:

• Longer attacks lasting 30 minutes to 6 hours
• Also triggered by stress
• May include dizziness and muscle weakness
• Extreme tiredness
• Sometimes improves later in life

Episodic ataxia doesn’t shorten lifespan, and medicines may help control symptoms.

Recessive Inherited Ataxias

These ataxias happen when a person gets faulty genes from both parents. The parents usually don’t have ataxia themselves but carry the gene.

Friedreich Ataxia

This is the most common hereditary ataxia. It damages the cerebellum, spinal cord, and peripheral nerves (which carry signals from the limbs to the brain). Symptoms typically start before age 25, and brain scans often look normal.

Key features include:

• Walking problems as the first symptom
• Spreads to affect arms and trunk
• Foot deformities like high arches
• Spine curvature (scoliosis)
• Slurred speech
• Fatigue
• Irregular eye movements
• Hearing loss
• Heart enlargement
• Possible heart failure and diabetes

RFC1-Associated Ataxia

This is the most common cause of late-onset ataxia. Symptoms typically include:

• Coordination problems
• Dizziness
• Numbness or tingling in the body
• Sometimes a persistent cough

Ataxia-Telangiectasia

This rare childhood disease causes degeneration in both the brain and the immune system, increasing the risk for other diseases.

Characteristics include:

• Tiny red “spider” veins (telangiectasia) in eye corners, ears, and cheeks
• Delayed motor skills
• Poor balance
• Slurred speech
• Frequent respiratory infections
• High risk of developing cancer, especially leukemia or lymphoma

Congenital Cerebellar Ataxia

This type results from cerebellum damage present at birth.

Wilson’s Disease

In this condition, copper builds up in the brain, liver, and other organs, causing ataxia and other symptoms.

Treatment options vary based on the type of ataxia. Some acquired ataxias can improve when the underlying cause is treated. For example:

• Alcohol-related ataxia may improve with complete abstinence
• Vitamin deficiency ataxias often reverse with proper supplementation
• Medicine-induced ataxia typically improves when the medication is stopped

Risk Factors

Several factors may increase your chance of developing ataxia. A family history of ataxia raises your risk significantly.

Other common risk factors include:

• Long-term excessive alcohol consumption
• Thyroid problems (hypothyroidism or hypoparathyroidism)
• Autoimmune conditions like multiple sclerosis and celiac disease
• Inflammatory disorders such as sarcoidosis
• Degenerative conditions like multiple system atrophy
• Cancer-related syndromes that affect the nervous system

Certain medications can trigger ataxia symptoms. Anti-seizure drugs and sedatives are the most common culprits. Additionally, environmental exposure to heavy metals (like lead and mercury) and chemical solvents found in products like paint thinner also pose risks.

Vitamin imbalances play a significant role too:

• Too little vitamin E, B-12, B-1 (thiamine), or B-6
• Excessive vitamin B-6 consumption

Hereditary ataxias usually don’t have cures, but treatments can help manage symptoms and complications. Research continues to develop new therapies for these complex conditions.