Ataxia

Ataxia refers to a lack of muscle coordination that causes awkward, clumsy movements that affect how you walk, use your arms and hands, speak, or move your eyes. Ataxia may be a symptom of another underlying condition, or it may be its own disorder.

Symptoms of ataxia may include:

• Balance problems
• Difficulty speaking
• Difficulty swallowing
• Involuntary, rapid eye movements (nystagmus)

Ataxia is caused by damage to the cerebellum, the region of the brain that controls balance and fine-tunes movement. Conditions that affect both the cerebellum and spinal cord are called spinocerebellar ataxias.

Many medical conditions can cause this damage, including:

• Autoimmune conditions, such as lupus or Hashimoto’s thyroiditis
• Brain tumors
• Cerebral palsy
• Congenital conditions present at birth, such as Chiari malformation
• Degenerative brain conditions, such as multiple system atrophy (MSA)
• Head injuries that cause concussions or brain damage
• Hypothyroidism (an underactive thyroid gland)
• Multiple sclerosis
• Stroke
• Wilson disease

Some ataxias are caused by genetic changes passed on from parents to children. These hereditary ataxias include:

• Ataxia telangiectasia
• Episodic ataxia
• Friedreich’s ataxia
• Mitochondrial ataxia
• Spinocerebellar ataxia

Ataxia may also develop due to exposures, nutritional deficiencies, or substance use disorders, including:

• Alcohol misuse or intoxication and recreational drugs
• Prescription medications, such as anti-seizure medications, some types of chemotherapy, and sedatives
• Infections due to viruses, bacteria, fungi, or parasites
• Inhaling substances, such as glue, paint, gasoline, toluene, or other solvents
• Radiation sickness
• Toxins, including heavy metal poisoning from lead or mercury
• Vitamin deficiencies, including low vitamin E, vitamin B12, vitamin B1, or vitamin B6 levels

A neurologist—a doctor specialized in diagnosing and treating conditions of the brain, spinal cord, and nervous system—diagnoses ataxia. If you have an underlying condition that may be causing ataxia, your neurologist will work with your other specialists to confirm a diagnosis.

Your neurologist will talk to you about your personal and family medical histories and perform a thorough physical examination.

Because ataxia can affect movement throughout the body, your doctor will check your vision, balance, coordination, reflexes, sensation, and strength. Inner ear problems can affect balance in ways that lead to ataxia, so you may be referred to an ear, nose, and throat (ENT) specialist for an ear examination.

The next step involves looking for possible causes of ataxia. Your doctor may recommend the following tests:

• Blood tests look for signs of infection, heavy metals, or vitamin deficiencies that might be causing symptoms.
• Genetic testing determines whether you have an inherited or acquired gene mutation (change) known to cause ataxia.
• Imaging studies, such as computed tomography (CT) scans or magnetic resonance imaging (MRI) scans, can show areas in the brain that are shrinking due to nerve deterioration. These studies also may show brain tumors, stroke, or areas of brain injury.
• Spinal tap (lumbar puncture) involves inserting a tiny needle into the space next to the spinal cord in the lower back. A small amount of fluid called cerebrospinal fluid (CSF) is removed for testing to check for signs of infections or inflammation.

Treatment for ataxia depends on the cause. Some types of ataxia can be reversed with intervention or treatment. Ataxia caused by vitamin deficiencies may be reversed with supplements. Ataxia associated with autoimmune conditions may improve with treatment of the autoimmune condition.

For other types of ataxias, treatment mainly focuses on managing symptoms to give you the best quality of life possible. Your doctor may prescribe medications to reduce spasms or tremors.

Rehabilitative therapies

Along with medication, your doctor may recommend speech therapy, occupational therapy, or physical therapy to help you stay strong, maintain balance, and manage ataxia symptoms.

• Physical therapy: Physical therapists recommend specific exercise routines to improve muscle strength, coordination, and balance. Regular, high-intensity aerobic exercise has been shown to improve balance and walking in people with ataxia. Your physical therapist can also show you how to properly use walkers or canes to help with balance.
• Occupational therapy: Occupational therapists find ways to make it easier for people with ataxia to perform daily tasks and move around at home.
• Speech therapy: If ataxia affects your mouth or throat, a speech therapist can teach you exercises and strategies to help you speak more clearly and swallow more easily.

People with ataxia receive specialized care at the Penn Ataxia Clinic, part of Penn Medicine’s Movement Disorders Center. Our multidisciplinary team includes a neurologist as well as speech, physical and occupational therapists, a genetic counselor, and a social worker, who work together to make sure you get comprehensive care that addresses all aspects of your life. Our involvement in clinical trials means you get the most advanced ataxia care possible.