Ataxia

Diagnosis

Diagnosing ataxia focuses on identifying the underlying cause. Your healthcare professional will likely perform physical and neurological exams, evaluating your balance, coordination, vision, and reflexes. Additional tests may include:

Blood tests
Blood work can help detect treatable causes of ataxia, such as vitamin deficiencies, infections, or metabolic disorders.

Imaging studies
A brain MRI is commonly used to investigate structural changes. MRI scans may reveal:

• Shrinkage of the cerebellum or other brain regions

• Treatable abnormalities such as benign tumors or blood clots

Spinal tap (lumbar puncture)
A lumbar puncture may be recommended if infection, inflammation, or other neurological conditions are suspected. A needle is inserted into the lower back to collect cerebrospinal fluid (CSF), which is then analyzed in a lab.

Genetic testing
For hereditary forms of ataxia, genetic testing may help identify gene mutations responsible for the condition. Testing is available for many, though not all, hereditary ataxias.

Treatment

Treatment for ataxia depends on the underlying cause:

• Addressing treatable conditions: If ataxia is caused by vitamin deficiencies, celiac disease, or infections, managing the underlying condition can improve symptoms. Some viral infections may resolve on their own.

• Medication: For Friedreich ataxia, the FDA-approved oral medication omaveloxolone (Skyclarys) may improve symptoms in adults and teens aged 16 and older. Regular blood tests are required to monitor liver enzymes and cholesterol levels. Possible side effects include headache, nausea, stomach discomfort, fatigue, diarrhea, and joint or muscle pain.

• Symptom management: Stiffness, tremors, or dizziness may be addressed with other medications as prescribed by your healthcare professional.

Adaptive devices
For ataxia caused by chronic conditions such as multiple sclerosis or cerebral palsy, adaptive devices can improve daily functioning:

• Walking aids, such as walkers or hiking sticks

• Modified utensils for eating

• Communication tools for speaking

Therapies
Targeted therapies may help improve coordination, mobility, and independence:

• Physical therapy to enhance balance and coordination

• Occupational therapy for daily tasks like feeding and dressing

• Speech therapy to improve communication and swallowing

• Exercise programs: Some studies suggest aerobic and strength training can be beneficial for certain people with ataxia