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:
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.
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.
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.
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.
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.
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.
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 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.
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.
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.
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:
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