Ataxia is a degenerative disease of the nervous system. Many symptoms of Ataxia can mimic those of being drunk – slurred speech, stumbling, falling, and lack of coordination. All are related to degeneration of the part of the brain, called the cerebellum, that is responsible for coordinating movement.
Ataxia is a disease that affects people of all ages. Age of symptom-onset can vary widely, from childhood to late-adulthood. Complications from the disease are serious, oftentimes debilitating, and can be life-shortening.
In the US, 150,000 people are affected by the rare disease, yet only 1 out of 10 people know what it is.
Typically, ataxia is also an umbrella term used to classify a lack of muscle control or coordination of voluntary movements, such as walking or picking up objects caused by other degenerative disease or injury. A sign of an underlying condition, ataxia can affect various movements, creating difficulties with speech, eye movement and swallowing.
Persistent ataxia usually results from damage to the part of your brain that controls muscle coordination (cerebellum). Many conditions can cause ataxia, including alcohol abuse, certain medications, stroke, tumor, cerebral palsy, brain degeneration and multiple sclerosis. Inherited defective genes also can cause the condition.
The word “ataxia” can also be used to describe a symptom of incoordination which can be associated with infections, injuries, other diseases, or degenerative changes in the central nervous system. Ataxia as a symptom is different from the neurological disease.
Symptoms vary by person and type of Ataxia. Symptom onset and progression vary as well. Symptoms may worsen slowly, over decades – or quickly, over mere months. Common symptoms of Ataxia are lack of coordination, slurred speech, trouble eating and swallowing, eye movement abnormalities, deterioration of fine motor skills, difficulty walking, gait abnormalities, tremors, and heart problems. Individuals with Ataxia often require the use of wheelchairs, walkers, and/or scooters to aid in their mobility.
Damage, degeneration or loss of nerve cells in the part of your brain that controls muscle coordination (cerebellum), results in ataxia. Your cerebellum comprises two Ping-Pong-ball-sized portions of folded tissue situated at the base of your brain near your brainstem.
The right side of your cerebellum controls coordination on the right side of your body; the left side of your cerebellum controls coordination on the left.
Diseases that damage the spinal cord and peripheral nerves that connect your cerebellum to your muscles also can cause ataxia. Some ataxia causes include:
- Head trauma. Damage to your brain or spinal cord from a blow to your head, such as might occur in a car accident can cause acute cerebellar ataxia, which comes on suddenly.
- Stroke. When the blood supply to a part of your brain is interrupted or severely reduced, depriving brain tissue of oxygen and nutrients, brain cells die.
- Cerebral palsy. This is a general term for a group of disorders caused by damage to a child’s brain during early development — before, during or shortly after birth — that affects the child’s ability to coordinate body movements.
- Autoimmune diseases. Multiple sclerosis, sarcoidosis, celiac disease and other autoimmune conditions can cause ataxia.
- Infections. Ataxia can be an uncommon complication of chickenpox and other viral infections. It might appear in the healing stages of the infection and last for days or weeks. Normally, the ataxia resolves over time.
- Paraneoplastic syndromes. These are rare, degenerative disorders triggered by your immune system’s response to a cancerous tumor (neoplasm), most commonly from lung, ovarian, breast or lymphatic cancer. Ataxia can appear months or years before the cancer is diagnosed.
- Tumor. A growth on the brain, cancerous (malignant) or noncancerous (benign), can damage the cerebellum.
- Toxic reaction. Ataxia is a potential side effect of certain medications, especially barbiturates, such as phenobarbital; sedatives, such as benzodiazepines; and some types of chemotherapy. These are important to identify because the effects are often reversible.
Also, some medications you take can cause problems as you age, so you might need to reduce your dose or discontinue the medication.
Alcohol and drug intoxication; heavy metal poisoning, such as from lead or mercury; and solvent poisoning, such as from paint thinner, also can cause ataxia.
- Vitamin E, vitamin B-12 or thiamine deficiency. Not getting enough of these nutrients, because of the inability to absorb enough, alcohol abuse or other reasons, can lead to ataxia.
For some adults who develop sporadic ataxia, no specific cause can be found. Sporadic ataxia can take a number of forms, including multiple system atrophy, a progressive, degenerative disorder.
Some types of ataxia and some conditions that cause ataxia are hereditary. If you have one of these conditions, you were born with a defect in a certain gene that makes abnormal proteins.
The abnormal proteins hamper the function of nerve cells, primarily in your cerebellum and spinal cord, and cause them to degenerate. As the disease progresses, coordination problems worsen.
You can inherit a genetic ataxia from either a dominant gene from one parent (autosomal dominant disorder) or a recessive gene from each parent (autosomal recessive disorder). In the latter case, it’s possible neither parent has the disorder (silent mutation), so there might be no obvious family history.
Different gene defects cause different types of ataxia, most of which are progressive. Each type causes poor coordination, but each has specific signs and symptoms.
Autosomal dominant inheritance pattern
- Spinocerebellar ataxias. Researchers have labeled more than 35 autosomal dominant ataxia genes, and the number continues to grow. Cerebellar ataxia and cerebellar degeneration are common to all types, but other signs and symptoms, as well as age of onset, differ depending on the specific gene mutation.
- Episodic ataxia (EA). There are seven recognized types of ataxia that are episodic rather than progressive — EA1 through EA7. EA1 and EA2 are the most common. EA1 involves brief ataxic episodes that may last seconds or minutes. The episodes are triggered by stress, being startled or sudden movement, and often are associated with muscle twitching.
EA2 involves longer episodes, usually lasting from 30 minutes to six hours, that also are triggered by stress. You might have dizziness (vertigo), fatigue and muscle weakness during your episodes. In some cases, symptoms resolve in later life.
Episodic ataxia doesn’t shorten life span, and symptoms might respond to medication.
Autosomal recessive inheritance pattern
- Friedreich’s ataxia. This common hereditary ataxia involves damage to your cerebellum, spinal cord and peripheral nerves. Peripheral nerves carry signals from your brain and spinal cord to your muscles. In most cases, signs and symptoms appear well before age 25.
The rate of disease progression varies. The first indication generally is difficulty walking (gait ataxia). The condition typically progresses to the arms and trunk. Muscles weaken and waste away over time, causing deformities, particularly in your feet, lower legs and hands.
Other signs and symptoms that might develop as the disease progresses include slow, slurred speech (dysarthria); fatigue; rapid, involuntary eye movements (nystagmus); spinal curvature (scoliosis); hearing loss; and heart disease, including heart enlargement (cardiomyopathy) and heart failure. Early treatment of heart problems can improve quality of life and survival.
- Ataxia-telangiectasia. This rare, progressive childhood disease causes degeneration in the brain and other body systems. The disease also causes immune system breakdown (immunodeficiency disease), which increases susceptibility to other diseases, including infections and tumors. It affects various organs.
Telangiectasias are tiny red “spider” veins that might appear in the corners of your child’s eyes or on the ears and cheeks. Delayed motor skill development, poor balance and slurred speech are typically the first indications of the disease. Recurrent sinus and respiratory infections are common.
Children with ataxia-telangiectasia are at increased risk of developing cancer, particularly leukemia or lymphoma. Most people with the disease need a wheelchair by their teens and die before age 30, usually of cancer or lung (pulmonary) disease.
- Congenital cerebellar ataxia. This type of ataxia results from damage to the cerebellum that’s present at birth.
- Wilson’s disease. People with this condition accumulate copper in their brains, livers and other organs, which can cause neurological problems, including ataxia. Early identification of this disorder can lead to treatment that will slow progression
Ataxia not caused by degeneration from injury or disease – that which is genuinely neurological – is diagnosed using a combination of strategies that may include medical history, family history, and a complete neurological evaluation. Various blood tests may be performed to rule out other possible disorders which may present similar symptoms. Genetic blood tests are now available for some types of hereditary ataxia.
Ataxia results in abnormal proteins that affect nerve cells, primarily in the cerebellum and the spinal cord. Eventually the affected nerve cells begin to function poorly and ultimately degenerate. As the disease progresses, muscles become less and less responsive to commands from the brain, causing coordination problems to become more pronounced.
Autosomal Dominant Ataxia Gene
Each child of a parent with an autosomal dominant Ataxia gene has a 50% chance of inheriting the Ataxia gene. Since the gene is dominant, if a gene is passed on to the child from one parent, the child will develop the disease. Men and women are affected equally.
Autosomal Recessive Ataxia Gene
Autosomal recessive inherited diseases also affect males and females equally, but both parents must be carriers of the Ataxia gene and each must pass on the Ataxia gene to the child for the child to develop the disease. Each child of parents who are carriers of a recessive gene have a 25% chance of developing the disease, a 50% chance of inheriting just one of the Ataxia genes, becoming a carrier themselves, and a 25% chance of inheriting no Ataxia genes.
Because a single recessive Ataxia gene does not cause symptoms, it can be passed on in a family for generations without being recognized. Therefore, there can appear to be no “family history” of Ataxia if the disease was inherited as a recessive gene.
Ataxia Gene Identification
The first Ataxia gene was identified in 1993 for a dominantly inherited type. It was called “Spinocerebellar Ataxia Type1 (SCA1)”. Subsequently, as additional dominant genes were found they were called SCA2, SCA3, etc. Generally, the number behind the SCA refers to the order in which the gene was found. At this time, 36 different gene mutations have been found.
We have dominant Ataxia classifications from SCA1 to SCA36. Genes have also been located for some of the recessive Ataxias; the most common being Friedreich’s Ataxia (FRDA). Ataxia with Oculomotor Apraxia Type 1 and Type 2 (AOA1 and AOA2) have also been identified.
What is Sporadic Ataxia?
There is a large group of people who have symptoms of Ataxia that usually begin in adulthood and who have no known family history of the disease. This is called Sporadic Ataxia and can be difficult to diagnose. There are many acquired and hereditary causes of Ataxia which must be ruled out before a diagnosis of Sporadic Ataxia can be made.
Sporadic Ataxia can be either “pure cerebellar” if only the cerebellum is affected or cerebellar plus, if the Ataxia is accompanied by additional symptoms such a neuropathy, dementia, or weakness, rigidity, or spasticity of the muscles. Disability may be greater and progress more quickly with the cerebellar plus form of Sporadic Ataxia. The cerebellar plus form of sporadic ataxia is also known as Sporadic Olivopontocerebellar Ataxia (Sporadic OPCA) or multiple system atrophy, cerebellar type (MSA-C).
Treating Ataxia requires an individualized approach and varies with cause. A person will work closely with their neurologist to develop a plan to address the symptoms of Ataxia. Speech and language therapy, occupational therapy, and physical therapy are common treatment options. They are sometimes used in conjunction with medication therapy to help manage symptoms.
Adaptive devices, such as walkers or canes, might help you maintain your independence. Physical therapy, occupational therapy, speech therapy and regular aerobic exercise also might help.
There is no cure for Ataxia yet.
When to see a doctor
If you aren’t aware of having a condition that causes ataxia, such as multiple sclerosis, see your doctor as soon as possible if you:
- Lose balance
- Lose muscle coordination in a hand, arm or leg
- Have difficulty walking
- Slur your speech
- Have difficulty swallowing
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