what is ataxia disease? || types of ataxia || symptoms|| causes || treatment || diagnosis||

Ataxia is a degenerative disease of the nervous system. Many symptoms of Ataxia mimic those of being drunk, such as slurred speech, stumbling, falling, and incoordination. These symptoms are caused by damage to the cerebellum, the part of the brain that is responsible for coordinating movement. Ataxia treatment involves a combination of medication to treat symptoms and  therapy to improve quality of life.

People affected by Ataxia may experience problems with using their fingers and hands, arms, legs, walking, speaking or moving their eyes. Ataxia affects people of all ages. Age of symptom-onset can vary widely, from childhood to late-adulthood. Complications from the disease are serious and oftentimes debilitating. Some types of Ataxia can lead to an early death.

Ataxia symptoms vary by person and type of Ataxia. Rate of progression varies 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

Deterioration of fine motor skills

Difficulty walking

Gait abnormalities

Eye movement abnormalities

Tremors

Heart problems

Individuals with Ataxia often require the use of wheelchairs, walkers, and/or scooters to aid in their mobility
Episodic Ataxia

Episodic Ataxia is clinically characterized by attacks of Ataxia with a clear onset of resolution. There are now eight recognized episodic Ataxia syndromes, numbered 1-8, in addition to late onset episodic Ataxia. The genes are known for EA1, EA2, ES5, and EA6. The best characterized are EA1 and EA2, the others are exceptionally rare and largely defined by single families.

Autosomal Recessive Ataxias

Autosomal recessive inherited diseases 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.

Friedreich’s Ataxia

Friedreich Ataxia (FRDA) was named after Nikolaus Friedreich, who first described it in 1863. It was the first form of hereditary Ataxia to be distinguished from other forms of Ataxia. It is caused by an abnormality of a single gene called the Frataxin (FXN) gene. The abnormality can be passed from generation to generation by family members who carry it. Two copies of each gene are inherited; one copy from the mother and one copy from the father. An individual who has one copy of an altered or nonfunctioning FXN gene does not develop any neurological symptoms and is called a carrier.

Ataxia Telangiectasia

Ataxia Telangiectasia appears early in childhood when children begin to walk. Though they usually start walking at a normal age, they wobble or sway when walking, standing still or sitting. They start to show signs of Ataxia and soon after will show sign of “telangiectasia,” or tiny red “spider” veins, which appear in the corners of the eyes or on the surface of the ears and cheeks exposed to sunlight. This unique appearance together with ataxia is what led to naming this disease “ataxia-telangiectasia.”

Mitochondrial Ataxia

Ataxia can be inherited in other ways too. Mitochondrial Ataxias pass from mother to child through the defect Mitochondria in the mother’s eggs. 

Acquired Ataxias

There is a large group of people who have symptoms of Ataxia that usually begin in adulthood, appear “out of nowhere”, and who have no known family history of the disease. With acquired Ataxia, there is an external cause, which means a person developed it because of something that happened during their life. This can include many different problems and events such as vitamin deficiencies, autoimmune conditions, some infections, exposures to toxic substances or drugs (especially alcohol), various cancers and many more.

Sporadic Ataxia

Sporadic Ataxia occurs without any evidence that it was inherited from a family member. It can be difficult to diagnose. Other forms of Ataxia must be ruled out before a diagnosis of Sporadic Ataxia can be made. This disease is termed “neurodegenerative” because the nerve cells in the cerebellum gradually disappear over time without a known cause. 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.

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  Ataxia-Telangiectasia