What is Ataxia?
Ataxia means “the loss of full control of bodily movements”.
Ataxia is the term for a group of rare conditions that cause loss of muscle control and coordination. People with ataxia often have problems with walking, speaking, swallowing, balance, vision and other bodily functions that need a high degree of control.
The term “ataxia” is also used to describe symptoms of incoordination that are associated with infections, injuries, and diseases, including degenerative diseases of the nervous system.
What are common symptoms of Ataxia?
Symptoms can develop suddenly or come on progressively over time. The type and onset of symptoms varies with the type of ataxia.
Common symptoms include:
- Problems with balance and coordination, causing unsteadiness, clumsiness and frequent stumbles or falls
- Difficulty walking and increasing weakness in the legs
- Difficulty with fine motor skills, causing problems with writing, eating or buttoning a shirt
- Slurred, slow and/or unclear speech
- Problems with vision, such as slow or involuntary eye movements, and partial or total loss of vision
- Difficulty swallowing
There are numerous other symptoms that can affect people with ataxia.
Who is affected by Ataxia?
Ataxias are rare conditions that can affect people of any age, although certain types are more common in certain age groups. Estimates from recent studies suggest that at least 10,000 adults and about 500 children in the UK are affected by progressive ataxias.
What causes Ataxia?
Ataxia is usually caused by damage to a part of the brain controlling muscle movement, called the “cerebellum”. It can also be caused by damage to other parts of the nervous system, including the spinal cord.
The damage can be the result of another medical condition, such as multiple sclerosis (MS), or can be caused by a stroke, tumor, head injury, long-lasting alcohol abuse, certain medications or other causes. This type of ataxia is called “acquired ataxia”.
Ataxia can also be caused by defective genes that the affected person inherited from their parents. The parents may or may not have been affected by ataxia themselves. This type of ataxia is called “hereditary ataxia”.
Sometimes ataxia can also develop because the brain is progressively damaged over time for unknown reasons. This type of ataxia is called “idiopathic late-onset cerebellar ataxia (ILOCA)”. Symptoms of ILOCA usually develop around 50 years of age and gets progressively worse over time.
Types of Ataxia
There are several different types of ataxia that can affect people in different ways.
Hereditary ataxias often get progressively worse over a number of years. How severe symptoms become depends on the type of ataxia, the age of onset and other factors.
- Friedrich’s ataxia
- The most common hereditary ataxia, which affects about 1 in every 50,000 people in the UK. Symptoms usually develop before the age of 25 (although symptoms can also first appear in much older people) and get progressively worse over time. People with Friedrich’s ataxia usually have a reduced life expectancy.
- Ataxia-telangiectasia (AT)
- A rarer type of hereditary ataxia that normally develops in early childhood but can also develop later. Disability usually progresses quickly, and many people affected by AT have a severely reduced life expectancy.
- Spinocerebellar ataxias
- Spinocerebellar ataxias are a group of hereditary ataxias that often don’t develop until adulthood, although some types can also begin in childhood.
- Episodic ataxia (EA)
- Episodic ataxia is a rare and unusual type of hereditary ataxia that frequently develops during the teenage years. Affected people experience episodes of ataxia but have no or only mild symptoms at other times. There are seven recognised types of episodic (rather than progressive) ataxia, called EA1 to EA7. Ataxia episodes can last from a few minutes to several hours, depending on the type of EA. Episodic ataxia does not shorten life expectancy and symptoms can sometimes be improved with medications.
Sporadic ataxia is a type of ataxia that can develop in adulthood. Affected people often have no family history of the disease and no specific cause (either hereditary or acquired) can be found. This makes this type of ataxia hard to diagnose.
A deficiency in certain nutrients, including vitamin E, vitamin B-12 and thiamine, can also cause symptoms of ataxia. If the body has problems to absorb these nutrients, either due to an underlying condition or as a result of alcohol abuse, it may be possible to control ataxia symptoms with vitamin supplements.
How is Ataxia diagnosed?
It can be difficult to diagnose ataxias because there are many medical conditions that cause similar symptoms. The diagnosis usually requires a neurologist to look at the person’s medical history and family history, and to complete a physical and neurological exam. These exams may include:
- Various blood tests to rule out other medical conditions
- Genetic tests to check for some types of hereditary ataxias
- Imaging tests, including a computerized tomography (CT) or magnetic resonance imaging (MRI) scan of the brain
A lumbar puncture, also called a spinal tap
How is Ataxia treated?
Some types of ataxia can be treated, but there is currently no cure. Treatment for ataxias can include:
- Medication to control muscle, bladder, heart and eye symptoms
- Speech and language therapy to help with speech and swallowing problems
- Physiotherapy to help with movement and muscle problems
- Occupational therapy to provide support for everyday or occupational problems
Use of adaptive devices, such as modified utensils for eating or walking sticks, to help with everyday problems