ATAXIA

Persistent ataxia usually results from damage to the part of the 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.

Ataxia can develop over time or come on suddenly. A sign of a number of neurological disorders, ataxia can cause:

• Poor coordination
• Unsteady walk and a tendency to stumble
• Difficulty with fine motor tasks, such as eating, writing or buttoning a shirt
• Change in speech
• Involuntary back-and-forth eye movements (nystagmus)
• Difficulty swallowing

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 pingpong-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. Ataxia causes include:

• Head trauma. Damage to the brain or spinal cord from a blow to the 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 the 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 the 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 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 Ataxias:

These include:

• 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 Recalcitrant Ataxias:

• These include:

  • Friedreich's ataxia. This common hereditary ataxia involves damage to the cerebellum, spinal cord and peripheral nerves. Peripheral nerves carry signals from the brain and spinal cord to the 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 the 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 a 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 high 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.