Understanding Ataxia: Causes, Symptoms, Diagnosis, and Treatment

Ataxia is not a single disease, but a term used to describe a group of heterogeneous neurological disorders that affect coordination, balance, speech, and movement control. People with ataxia often have trouble performing voluntary movements smoothly and accurately. Their hand movements become clumsy, their walking unstable, and their speech may become unclear or slow.

Ataxia occurs when there is damage to the cerebellum or to its neuronal connections. The cerebellum is the part of the brain responsible for coordinating voluntary movements, posture, balance, walking, eye movements, and speech (1). Depending on the underlying cause, ataxia may appear suddenly or develop progressively over time. Some forms of ataxia are temporary and treatable, while others are chronic and degenerative (2). If the ataxia is chronic, the symptoms can be alleviated, but it might not be possible to reverse and cure the condition. Considered a rare neurological condition, the estimated prevalence of childhood ataxia is approximately 26 cases per 100,000 children. Early diagnosis can

identify reversible causes and improve quality of life faster and better (3).

What are the symptoms of Ataxia?

There are many different symptoms of ataxia, and they vary depending on the

area of the cerebellum affected and the underlying cause of the condition.

The most characteristic symptoms are instability when walking, poor balance, and

incoordination of the voluntary movements in both arms and legs. This

incoordination means difficulty performing precise movements such as writing or

everyday tasks such as buttoning clothes. It may also lead to trembling (4, 5).

Another common symptom is speech alteration, due to the difficulty in articulating

and controlling the voice volume, tone and breathing, which usually leads to slow

speech. Finally, ataxia may produce abnormal eye movements, leading to double

vision or other eye conditions such as involuntary, rapid, and repetitive eye

movements (4, 5).

Additional symptoms may include difficulty swallowing (dysphagia), fatigue,

dizziness, and cognitive or emotional changes, depending on the specific type of

ataxia (5).

What causes ataxias? Different Types

Ataxias usually result from damage of the cerebellum, although it can also be

caused by damage to other parts of the nervous system that connects with the

cerebellum. Patients often come to the clinic with complaints of clumsiness,

speech changes, and unsteady gait.

Healthcare professionals commonly classify ataxia into three major groups:

• Acquired ataxia: this pathology develops as a result of another disease,

injury, or underlying medical condition. Common causes include damage

to the cerebellum caused by strokes, brain tumors, or autoimmune

conditions such as autoimmune cerebellar ataxia and immune-mediated

disorders like multiple sclerosis (2). Severe nutritional deficiencies,

including deficiencies in vitamin B12 or vitamin E, as well as thyroid

disorders such as hyperthyroidism or hypothyroidism, can also lead to

acquired ataxias. In addition, long-term excessive alcohol consumption

can also damage the cerebellum and contribute to the development of

acquired ataxias. Certain infections may also cause ataxia, including viral

infections and prion diseases such as Creutzfeldt-Jakob disease (6).

• Hereditary ataxia: this form of ataxia is caused by genetic mutations,

which are alterations in an individual’s genetic code that can be passed

from one generation to another. These genetic mutations may be inherited

from family members who may or may not show symptoms of the disease.

Examples include Friedreich ataxia and spinocerebellar ataxias, which are

among the most studied hereditary forms of the condition (7).

• Non-hereditary ataxia. This type includes congenital malformations of the

central nervous system that develops during the intrauterine development,

with symptoms that typically appear during childhood (6).

In some cases, patients have no family history of ataxia, and still for unclear

reasons, the brain is progressively damaged over time producing symptoms of

cerebellar ataxias. This is the case for the idiopathic late-onset cerebellar ataxia

(4).

How is Ataxia Diagnosed?

Making a correct diagnosis of ataxia may be a challenge. The diagnosis of ataxia

is based on evaluating the symptoms presented by the patient, including a review

of personal and family medical history, lifestyle habits, and previous illnesses.

Healthcare providers will assess balance, vision, coordination, and reflexes (5).

When diagnosing ataxia, healthcare professionals usually request a complete

blood test to exclude any autoimmune disorders, metabolic problems, or toxic

causes such as excessive alcohol or drug use. Imaging studies, particularly brain

magnetic resonance imaging (MRI) are essential for identifying lesions

affecting the cerebellum or other parts of the central nervous system. MRI can

also detect other treatable conditions, such as benign tumors (5).

A lumbar puncture may be needed if infection or inflammation is suspected as

the cause of ataxia. With this test, a sample of cerebrospinal fluid can be sent to

a laboratory for analysis (5).

A genetic test might be required to diagnose hereditary forms of ataxia.

Advances in next-generation sequencing have significantly improved the

diagnostic accuracy of hereditary ataxias in recent years (5, 8).

How is Ataxia Treated?

Different causes of ataxia require different therapeutic approaches. The treatment

of ataxia depends on its underlying cause and the specific type of ataxia affecting

the patient. If ataxia results from a viral infection, it is likely that the ataxia resolves

on its own over time. When ataxia has a metabolic origin, such as vitamin B12

deficiency, the condition may be stopped or improved with specific interventions

like vitamin supplements. Tumor-related ataxias may require surgery,

chemotherapy, or both. In cases of immunological origin, immunomodulatory

medications may be prescribed (2, 9).

Unfortunately, degenerative hereditary ataxias currently have no cure. When

ataxia is caused by serious underlying brain damage such as a stroke or severe

head injury, it may not be possible to reverse or significantly improve the

condition. In these cases, treatment focuses on symptom management and

preserving independence for the patient (2, 9).

Regardless of the cause, treatment is often complemented by neurorehabilitation

therapies specifically aimed at the patients’ needs. Rehabilitation plays a critical

role in helping patients maintain mobility, communication, and quality of life.

Physical therapy, occupational therapy, speech therapy, and psychological

support are often essential components of long-term care (4).

Living with Ataxia

Living with ataxia can be physically and emotionally challenging. Many patients

experience progressive loss of independence, difficulties with daily activities,

social isolation, and anxiety about the future. Early diagnosis, rehabilitation, and

multidisciplinary care can significantly improve outcomes and help individuals

adapt to the condition (5).

Increasing public understanding of ataxia is also essential. Greater awareness

can promote earlier diagnosis, improve access to treatment and rehabilitation,

and reduce stigma surrounding neurological disabilities.

References

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Aug;22(4):419–429. doi:10.1097/WCO.0b013e32832b9897.

2. Divya KP, Kishore A. Treatable cerebellar ataxias. Parkinsonism Relat

Disord. 2020;4:100053. doi:10.1016/j.prdoa.2020.100053.

3. Musselman KE, Stoyanov CT, Marasigan R, Jenkins ME, Konczak J,

Morton SM, et al. Prevalence of ataxia in children: a systematic review.

Neurology. 2014 Jan 7;82(1):80-89.

doi:10.1212/01.wnl.0000438224.25600.6c.

4. National Health Service. Ataxia. [Internet]. London: NHS; 2024. [cited

2026 May 12]. Available from: https://www.nhs.uk/conditions/ataxia/

5. Mayo Clinic. Ataxia: Symptoms and causes. [Internet]. Rochester (MN):

Mayo Foundation for Medical Education and Research; 2024. [cited 2026

May 12]. Available from: https://www.mayoclinic.org/diseases-

conditions/ataxia/symptoms-causes/syc-20355652

6. Paris Brain Institute. What causes ataxia? Paris Brain Institute. [Internet].

Paris: Paris Brain Institute; 2024. [cited 2026 May 12]. Available from:

https://parisbraininstitute.org/disease-files/ataxias/what-causes-ataxia

7. Corben LA, Lynch D, Pandolfo M, Schulz JB, Delatycki MB,

CONSENSUS Group. Consensus clinical management guidelines for

Friedreich ataxia. Orphanet J Rare Dis. 2014;9(1):184.

doi:10.1186/s13023-014-0184-7.

8. Németh AH, Kwasniewska AC, Lise S, et al. Next-generation sequencing

for molecular diagnosis of neurological disorders. Curr Opin Neurol.

2019;32(5):762–767.

9. Sarva H, Shanker VL. Treatment options in degenerative cerebellar

ataxia: A systematic review. Mov Disord Clin Pract. 2014;1(4):291–298.

doi:10.1002/mdc3.12057.

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