Ataxia: Causes, Symptoms, Treatment & Prevention

What Is Ataxia?

To understand ataxia, you should first learn about the part of the brain structure that is responsible for coordination, i.e., the cerebellum.

The cerebellum is located at the back of your brain and is responsible for cognitive function and motor skills. Ataxia is a disorder that can affect muscle movement and coordination because of cerebellar damage.

The condition arises from the failure of the cerebellum to regulate muscle contraction. This leads to poor balance, incoordination, difficulties in controlling hand movements, speech disorders like dysarthria, and abnormal eye movements called nystagmus.

What Are the Types of Ataxia?

Ataxia is categorised as:

How Common Is Ataxia in India?

Various factors influence the prevalence rate of hereditary ataxias in India; genetics is one of them. SCA12, SCA2, and SCA1 are the most common hereditary ataxias found in India. It comprises 8.6%, 8.5%, and 4.8% of the Indian population, respectively.

Studies have revealed that Spinocerebellar Ataxia Type 2 (SCA2) is considered one of the most prevalent types of hereditary ataxia in South Asia. The SCA12 type is unique to India.

Acquired ataxia is also common because of conditions like stroke, chronic alcohol consumption, and malnutrition.

Underdiagnosis of ataxia is prevalent in India due to the unavailability of specialised neurogenetic facilities in parts of the country outside of metro cities.

What Are the Symptoms of Ataxia?

Development of ataxia symptoms is either progressive or rapid in hereditary or acquired ataxias, respectively. The symptoms include:

• Dysmetria (difficulty performing voluntary coordinated movements)

• Dysarthria (difficulty coordinating muscles in the mouth, tongue, and larynx)

• Dysphagia (difficulty swallowing)

• Nystagmus (involuntary eye movements causing problems maintaining visual focus and tracking moving objects)

• Abnormal gait

• Inability to maintain balance

• Tremors

• Fatigue

What Causes Ataxia?

Various causes of ataxia include:

• Genetic Mutations (Hereditary Ataxia): Genetic abnormalities that cause progressive damage to Purkinje cells (large neuron branches) in the cerebellum.

• Stroke: A stroke can occur due to either partial or total blockage of the cerebellum or brain stem arteries, which leads to ataxia.

• Excessive Alcohol Consumption: Overconsumption of alcohol damages cerebellar neurons and is considered a common cause of ataxia.

• Lack of Certain Vitamins: Deficiencies in Vitamin B12, Vitamin E, and Vitamin B1 can impair nerve function and cause ataxia.

• Inflammation: Inflammation due to multiple sclerosis, coeliac disease, anti-GAD antibody encephalitis, and paraneoplastic cerebellar degeneration due to some cancers can cause ataxia.

• Hypothyroidism: Hypothyroidism is a reversible and treatable cause of ataxia. It is common to test thyroid function when diagnosing ataxia.

• Medication: Some medicines like anticonvulsants, chemotherapeutic agents, lithium, and heavy metal poisoning might lead to cerebellar injuries and the development of medication/toxic ataxia.

• Brain Tumours: Compression and invasion of the cerebellum by posterior cranial fossa and cerebellar tumours can trigger ataxia..

Complications Associated with Ataxia

Untreated or progressing ataxia can lead to various complications, which include:

• Falls and Other Injuries: Because of balance issues, accidental falls, bone injuries, and head traumas may occur.

• Aspiration Pneumonia: Moderate and severe cases of ataxia involve problems with swallowing. This can lead to aspiration pneumonia, making it one of the leading causes of death in hereditary forms of ataxia.

• Social Isolation: With coordination, locomotion, and manual dexterity issues, patients require additional assistance with simple daily activities, including hygiene.

• Difficulties in Communication: Problem in speaking eventually affecting the patient's communication skills.
  
  

• Depression and Anxiety: As a progressive and unpredictable disease that usually occurs in young patients, hereditary ataxia can bring significant psychological disturbances, including anxiety and depression.
  
  

• Friedreich's Ataxia: This condition is characterised by hypertrophic cardiomyopathy, a progressive thickening of the heart muscle.
  
  

• Diabetes Mellitus: Patients suffering from Friedreich ataxia often suffer from type II diabetes mellitus. This condition usually arises from cell damage to the pancreas due to a hereditary defect in the patient.

When Should I See My Healthcare Provider?

Visit your neurologist immediately in case you notice the following:

• Symptoms of unsteady walking that are not related to any visible physical problem (for example, pain and muscle weakness)

• Symptoms of poor coordination, slurred speech, or double vision that appear suddenly (can indicate a stroke)

• Progression of poor handwriting, difficulty performing fine motor functions, frequent drops of things

• A family history of ataxia or other forms of progressive brain disease; genetic counseling should be considered even before symptoms occur

• Problems chewing or swallowing food, leading to coughing or choking

• The appearance of symptoms following a viral infection, particularly among children

How Is Ataxia Diagnosed?

Here are some tests that doctors can conduct to diagnose ataxia:

Note: Pathology lacks a specific diagnostic test. It is associated with the need to define the causative agent of the disorder.

How is Ataxia Treated?

Treatment options for most cases of inherited ataxias are not effective. Emphasis is laid on treatment of the reversible factors, prevention of the disease's progression, management of symptoms, and preservation of the quality of life.

These strategies often include:

What Is the Prognosis of Ataxia?

The prognosis of ataxia varies depending on its underlying cause, severity, and progression. Some forms of ataxia, such as those caused by vitamin deficiencies, infections, medication side effects, or other treatable conditions, may improve or resolve with appropriate treatment.

However, hereditary and neurodegenerative forms of ataxia are often progressive and may lead to increasing difficulties with balance, coordination, speech, and daily activities over time.

While there is currently no cure for many inherited ataxias, treatments like physical therapy, speech therapy, and supportive care can help manage symptoms and improve quality of life.

Early diagnosis and ongoing medical care are important for positive outcomes.

Can Ataxia be Managed/Cured?

Reversing ataxia will depend solely on what causes this disorder. Ataxia due to vitamin deficiency, hypothyroidism, or excessive alcohol consumption is treatable. In children, post-infectious ataxia does not cause any permanent injury.

Genetic ataxias are not treatable and are characterised by a progressive course. The rate of progression also varies depending on the patient and other health conditions.

Nonetheless, with proper physiotherapy and occupational therapy, among other factors, they can lead a decent life in the years to come. Studies on treatments that modify diseases are making tremendous progress, particularly in the case of Friedreich's ataxia.

How to Prevent Ataxia?

Hereditary ataxia cannot be prevented, usually due to the genetic mutation. A person who has a family history of hereditary ataxia needs to undergo genetic counselling. This will help in identifying whether they will pass the disease to their offspring.

Preventive measures against acquired ataxia include:

• Take Vitamin-Rich Foods: Eating foods that are rich in vitamins B12 and E, especially for vegetarians and senior citizens who are more likely to lack such nutrients.

• Avoid Drinking: Avoiding heavy intake of alcohol since alcoholism is one of the leading causes of cerebellar disorders.

• Manage Diabetes/Hypertension: Managing diseases like diabetes and hypertension, since the former leads to strokes while the latter is linked with an increased risk of cerebellar ataxia.

• Maintain Healthy Body Weight: A healthy body weight can help in preventing cerebrovascular disorders and boost cardiovascular system function.

• Take Vitamin Supplements: Vitamin B1, commonly referred to as thiamine, is particularly beneficial for those whose nutrition is inadequate and who are chronic alcoholics.

• Follow Prescription: Only take the medicines prescribed by your doctor, as certain drugs can act as cerebellar toxins when taken in large quantities.

• Ongoing Treatment: Treatment of any existing autoimmune disease, including immunomodulation, can be helpful for autoimmune ataxia cases.

Does Health Insurance Cover Ataxia?

Yes. Most comprehensive health insurance plans cover hereditary/non-hereditary ataxia in India, as it falls within the category of neurological disorders. Coverage, depending on policy terms, can extend to:

• Pre- and post-hospitalisation expenses (if applicable)

• MRI scans

• Genetic tests

• Nerve function tests

• Neurologist consultation fees

• Aspiration pneumonia, heart, or other related complications of ataxia treatments

Hereditary ataxias, which are genetically related, can require a waiting period of up to 36 months for pre-existing disease. Always review policy documents carefully to choose one that best fits your requirements.

How Much Health Insurance Coverage Is Needed for Ataxia Treatment?

Insurance coverage will depend on the severity of the disease, the cause of the ataxia, and the individual's future need for various forms of treatment.

For individuals with mild and acquired types of ataxia, a cover of ₹5-₹10 lakh is generally considered adequate during emergencies for hospitalisation, medical diagnosis, and treatment of complications from ataxia.

However, for those with progressive and hereditary ataxia who require hospitalisation, rehabilitation, and surgery, a coverage of ₹15-20 lakh can be beneficial.