Ataxia

What ataxia looks like

Ataxia can affect different parts of the body:

• Gait ataxia: a wide-based, staggering walk, difficulty walking in a straight line or turning, frequent falls
• Limb ataxia: clumsy hands, a tremor that worsens as the hand approaches a target (intention tremor), difficulty with buttons or handwriting, overshooting when reaching
• Speech: slow, slurred or "scanning" speech with irregular rhythm (ataxic dysarthria)
• Eyes: jerky eye movements (nystagmus), double vision, difficulty tracking objects
• Swallowing problems in advanced disease

Types of ataxia

Ataxia is also classified by onset: acute (minutes to days), subacute (weeks to months), and chronic or progressive (months to years).

Causes

Acquired ataxia

• Alcohol: acute intoxication, and long-term heavy drinking causing alcoholic cerebellar degeneration, mainly affecting walking
• Stroke or bleeding in the cerebellum
• Multiple sclerosis
• Medicines and toxins: phenytoin, carbamazepine, lithium, benzodiazepines, some chemotherapy drugs, mercury, solvents
• Vitamin deficiencies: thiamine (B1), causing Wernicke encephalopathy, vitamin B12 and vitamin E
• Autoimmune causes: gluten ataxia linked to celiac disease, anti-GAD antibodies, and paraneoplastic cerebellar degeneration triggered by a hidden cancer
• Infections: post-viral cerebellitis in children, especially after chickenpox, and rarely brain abscess or prion disease
• Brain tumors and hydrocephalus
• Underactive thyroid
• Head injury
• Peripheral neuropathy causing sensory ataxia

Inherited ataxia

• Friedreich ataxia: the most common inherited ataxia, usually starting between ages 5 and 15, with sensory loss, scoliosis, heart muscle disease and diabetes. Recessive inheritance.
• Spinocerebellar ataxias (SCAs): a group of dominantly inherited ataxias, usually starting in adulthood.
• Ataxia-telangiectasia: starts in early childhood with visible blood vessels in the eyes and immune problems.
• Episodic ataxias: attacks of ataxia lasting minutes to hours, often triggered by stress or exercise.
• Fragile X-associated tremor/ataxia syndrome (FXTAS): tremor and ataxia in older adults, mostly men, who carry a fragile X premutation.

In some people with slowly progressive ataxia, no cause is found (sporadic or idiopathic late-onset ataxia), or it is part of multiple system atrophy.

Diagnosis

A neurologist will ask about the speed of onset, alcohol, medicines, diet, family history and other symptoms, then examine:

• walking, heel-to-toe walking and standing with feet together, eyes open and closed (Romberg test)
• finger-to-nose and heel-to-shin tests
• rapid alternating hand movements
• speech, eye movements, sensation and reflexes

Tests may include:

• MRI of the brain and spinal cord, the key imaging test
• blood tests: B1, B12, vitamin E, thyroid function, celiac antibodies, liver tests, autoimmune and paraneoplastic antibodies
• nerve conduction studies for sensory ataxia
• genetic testing for inherited ataxias, with genetic counseling
• CT of the chest, abdomen and pelvis if a paraneoplastic cause is suspected
• lumbar puncture in some cases

Treatment

Treat the cause

• Stop alcohol and give thiamine.
• Correct vitamin deficiencies.
• Adjust or stop medicines that cause ataxia.
• Gluten-free diet for gluten ataxia.
• Treat MS, thyroid disease, tumors or infections.
• Immune treatments for autoimmune ataxias.

Many acquired ataxias improve, sometimes completely, if treated early.

Specific medicines

• Omaveloxolone is approved for Friedreich ataxia in people aged 16 and older.
• Acetazolamide or 4-aminopyridine help some episodic ataxias.
• Medicines can also ease tremor, stiffness, depression and bladder symptoms.

Rehabilitation

• Physical therapy: intensive balance and coordination training improves walking and reduces falls, even in progressive ataxias.
• Occupational therapy: adaptive tools for eating, writing and dressing, and home safety changes.
• Speech and swallowing therapy.
• Walking aids: canes, walkers, and wheelchairs when needed.

Outlook

The outlook depends on the cause. Ataxia from alcohol intoxication, medicines or post-viral cerebellitis usually resolves. Stroke-related ataxia often improves with rehab. Inherited and degenerative ataxias tend to progress slowly over years, but therapy and support help people stay active and independent for longer.

Frequently asked questions

What is ataxia?

Ataxia is a loss of coordination that makes movements clumsy and unsteady. It typically causes a wide, staggering walk, difficulty with fine hand movements, slurred speech and jerky eye movements. It is a sign of damage to the cerebellum, sensory nerves or inner ear.

What causes ataxia?

Common causes include alcohol, stroke, multiple sclerosis, certain medicines, vitamin B1, B12 or E deficiency, celiac disease, tumors and infections. Some forms are inherited, such as Friedreich ataxia and the spinocerebellar ataxias.

Is ataxia curable?

Ataxia caused by alcohol, medicines, vitamin deficiency or autoimmune conditions can improve or disappear with treatment. Inherited and degenerative ataxias cannot be cured yet, but therapy, assistive devices and some new medicines help manage them.

What is cerebellar ataxia?

Cerebellar ataxia is the most common type, caused by damage to the cerebellum. It causes an unsteady walk, clumsy limbs with intention tremor, slurred speech and nystagmus. Unsteadiness is present even with the eyes open, unlike sensory ataxia.

Is ataxia hereditary?

Some types are. Friedreich ataxia, the spinocerebellar ataxias and ataxia-telangiectasia are inherited. Many other cases are acquired. A neurologist may recommend genetic testing if ataxia runs in the family or no other cause is found.