Most disorders that result in ataxia occur when brain cells in the cerebellum, the part of the brain that controls movement, deteriorate. These changes in the nervous system, called cerebellar and spinocerebellar degeneration, lead to failure of muscle control in the arms and legs, causing issues with coordination and balance. The word ataxia can be used to describe these symptoms as well as the family of hereditary movement disorders, but it is not a diagnosis on its own. Read more about ataxia and the brain and nervous system disorders that cause it below.
For hereditary ataxias, the prevalence rate is 10 cases per 100,000 individuals
Spinocerebellar ataxias affect an estimated 15,000-20,000 people in the U.S.
In children, the prevalence of ataxia is 26 cases per 100,000 individuals
Many ataxias are hereditary, meaning they are inherited through a defective gene passed down from one or both parents. They are then classified by the location of the defective chromosome and the pattern of inheritance—or the way the disease is passed from parent to child.
Autosomal dominant, or dominantly inherited ataxias, are caused by a defective gene passed down from one parent.
Autosomal recessive forms of ataxia must be passed through a defective gene carried by both parents.
An estimated 15,000 to 20,000 people in the U.S. have spinocerebellar ataxia (SCA), a group of dominantly inherited types of ataxia. Tens of thousands more people have recessive, sporadic, or other forms of ataxia. The most common hereditary ataxias are Machado-Joseph disease and Friedreich’s ataxia. Ataxia-telangiectasia, which affects muscle movement and speech, is an inherited form of ataxia that often begins before age five.
In addition to inherited forms of ataxia, sporadic ataxias can occur with no apparent family history of ataxia. Ataxia can also be acquired due to an external cause or underlying condition, such as a virus or infection, stroke, multiple sclerosis, tumors, and peripheral neuropathy. Other contributing conditions include alcoholism, metabolic disorders, and vitamin deficiencies.
Ataxia is often a result of an underlying disorder that causes cerebellar or spinocerebellar degeneration. The term “ataxia” refers to a set of symptoms or a family of movement disorders rather than a specific diagnosis.
Ataxia symptoms, age of onset, and rate of progression will vary by person and cause. Early signs of ataxia often include impaired coordination and balance. The loss of muscle control can lead to slurred speech, an abnormal way of walking, posture abnormalities, issues with fine motor skills, tremors, and difficulty with walking, speaking, and eating. People with ataxia have problems moving their fingers, hands, arms, legs, and eyes.
A neurologist can provide a diagnosis and determine the type of ataxia. Hereditary ataxia can be diagnosed with genetic blood tests. Other conditions that cause ataxia are typically diagnosed based on medical history, family history, and a neurological exam as well as blood tests to rule out other disorders.
It’s important to work closely with a neurologist who can address symptoms and guide an individualized treatment plan. There is no cure for hereditary ataxia. However, acquired ataxias can be treated by addressing the underlying condition.
Treatment for ataxia is focused on symptom management and quality of life. Medications can help prevent or reduce symptoms. Physical, occupational, and speech therapy may help strengthen muscles or improve speech.
Staying active is a key part of treatment. Some people with ataxia use devices, such as wheelchairs and walkers, to assist them in walking and moving through their daily activities. The prognosis for people with ataxia depends on the underlying cause.
Current research is focused on the causes of ataxia, as well as treatments and cures to prevent or halt the degradation of brain cells. With a better understanding of the genetic causes and environmental triggers of ataxia, researchers and scientists will have greater insight into effective treatments and possibilities for prevention.
The American Brain Foundation offers Next Generation Research Grants in diseases that can cause ataxia such as Parkinson’s MS, stroke, and neuromuscular disease.
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