Ataxia and cerebellar or spinocerebellar degeneration

Ataxia often occurs when parts of the nervous system that control movement are damaged. People with ataxia experience a failure of muscle control in their arms and legs, resulting in a lack of balance and coordination or a disturbance of gait. While the term ataxia is primarily used to describe this set of symptoms, it is sometimes also used to refer to a family of disorders. It is not, however, a specific diagnosis.

Most disorders that result in ataxia cause cells in the part of the brain called the cerebellum to degenerate, or atrophy. Sometimes the spine is also affected. The phrases cerebellar degeneration and spinocerebellar degeneration are used to describe changes that have taken place in a person's nervous system (neither term constitutes a specific diagnosis). Cerebellar and spinocerebellar degeneration have many different causes.

Many ataxias are hereditary and are classified by chromosomal location and pattern of inheritance:

• Autosomal dominant, in which the affected person inherits a normal gene from one parent and a faulty gene from the other parent
• Autosomal recessive, in which both parents pass on a copy of the faulty gene

Among the more common inherited ataxias are Friedreich's ataxia and Machado-Joseph disease. Sporadic ataxias can also occur in families with no prior history.

Ataxia also can be acquired. Conditions that can cause acquired ataxia include stroke, multiple sclerosis, tumors, alcoholism, peripheral neuropathy, metabolic disorders, and vitamin deficiencies.

There is no cure for the hereditary ataxias. If the ataxia is caused by another condition, that underlying condition is treated first. A variety of drugs may be used to either effectively prevent symptoms or reduce the frequency with which they occur. Physical therapy can strengthen muscles, while special devices or appliances can assist in walking and other activities of daily life. The prognosis for individuals with ataxia and cerebellar/spinocerebellar degeneration varies depending on its underlying cause.

How can I or my loved one help improve care for people with ataxia and cerebellar or spinocerebellar degeneration?

Consider participating in a clinical trial so clinicians and scientists can learn more about ataxia and cerebellar or spinocerebellar degeneration and related disorders. Clinical research uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.

All types of volunteers are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.

For information about participating in clinical research visit NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with ataxia and cerebellar or spinocerebellar degeneration at Clinicaltrials.gov.

Where can I find more information about ataxia and cerebellar or spinocerebellar degeneration?

The following organizations and resources help individuals, families, friends, and caregivers of people living with these conditions:

Friedreich's Ataxia Research Alliance (FARA)
Phone: 703-426-1576

MedlinePlus

National Ataxia Foundation (NAF)
Phone: 763-553-0020

National Organization for Rare Disorders (NORD)

Content source: https://www.ninds.nih.gov/health-information/disorders/ataxia-and-cerebellar-or-spinocerebellar-degeneration. Accessed June 21, 2023.

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