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What is ataxia? Ataxia is a mobility disorder that affects the proper coordination of movements of different parts of the body. In general terms, this usually causes difficulties in the person’s accuracy and speed, as it can affect the way they speak, walk or move within a given space.

As it is a degenerative process, the effects of ataxia can appear in the short, medium and long term, depending on the characteristics of each person and the intensity of the clinical condition. Thus, these types of conditions can seriously deteriorate people’s quality of life if they do not receive rapid treatment based on clinical studies recognized and evaluated by the scientific community.

When symptoms of ataxia appear

How does ataxia start? Despite the characteristics described above, we must know that ataxias do not develop in the same way in all cases . In certain cases, the origin of symptoms begins in the first years of life, which can affect motor coordination, eye movements, walking, fine and gross motor coordination. On other occasions, on the other hand, the onset of these inconveniences may occur in later periods of life and their sequelae may be greater or lesser in each person.

However, in all cases the diagnosis must be performed by a specialized mental health professional who evaluates the clinical qualities of each patient according to aspects such as age, genetic background or pre-existing diseases, among others.

Types of ataxia

There are different types of ataxia, among which we can distinguish:

1-hereditary ataxias

Hereditary ataxias are genetic, which means that they are caused by a defect in a certain gene that is present from the beginning of a person’s life, inherited from their parents. Hereditary ataxias can be divided into those that are dominantly inherited, which are passed from generation to generation due to a single copy of a defective gene passed from parent to child, and those that are recessively inherited, in which observed in a single generation and is due to two copies of a defective gene.

autosomal dominant ataxias

Each child of a parent with an autosomal dominant Ataxia gene has a 50% chance of inheriting the Ataxia gene.

Spinocerebellar ataxia

This is a specific type of ataxia among a group of inherited diseases of the central nervous system. Genetic defects lead to deterioration of specific nerve fibers that carry messages to and from the brain, resulting in degeneration of the cerebellum (the brain’s motor coordination center).

Episodic ataxia (EA)

There are eight recognized types of ataxia that are episodic: EA1 to EA7, plus late-onset episodic ataxia. EA1 and EA2 are the most common: EA1 involves brief ataxic episodes that can last seconds or minutes. Stress, startles, or sudden movements trigger these episodes, which are often associated with muscle spasms.

EA2 involves longer episodes, typically lasting between 30 minutes and six hours, which are also triggered by stress. The person may experience dizziness, fatigue, and muscle weakness during their episodes.

2. Autosomal recessive ataxias

Autosomal recessive hereditary diseases affect men and women equally: in this case, both parents must carry the ataxia gene and transmit it to the child  to produce the disease . Each child of parents who are carriers of a recessive gene has a 25% chance of developing the disease, a 50% chance of inheriting just one of the Ataxia genes and becoming a carrier themselves, and a 25% chance of not being a carrier. inherit ataxia genes.

Friedreich’s ataxia

Friedreich’s ataxia (FRDA) was named after Nikolaus Friedreich, who first described it in 1863. It was the first distinguished form of hereditary ataxia in the history of medicine, caused by an abnormality of a single gene called the Frataxin gene. (FXN).

Friedrich’s ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, signs of pyramidal tract involvement, scoliosis, and in some cases, cardiomyopathy, diabetes mellitus, visual loss and impaired hearing.

Ataxia Telangiectasia

It affects the nervous system, the immune system, and other body systems. This disease makes its appearance early in childhood, when children begin to walk. Although they usually begin to walk at a normal age, those with Ataxia Telangiectasia wobble or sway when walking, standing, or sitting. Shortly after those first signs appear, “telangiectasia” or small red “spiderweb” veins will appear, appearing in the corners of the eyes or on the surface of the ears and exposed cheeks when exposed to sunlight . This unique appearance, along with the characteristic signs of ataxia, is what led to the name ataxia telangiectasia.

Recessive mitochondrial ataxia

Mitochondrial ataxias are those that pass from mother to child through the defect of the mitochondria in the mother’s ovules. It is a rare mitochondrial DNA maintenance syndrome characterized by early-onset cerebellar ataxia and a variable combination of epilepsy, headache, dysarthria, ophthalmoplegia, peripheral neuropathy, intellectual disability, psychiatric symptoms, and movement disturbances.

3. Acquired ataxias

There is a large group of people who have symptoms of ataxia that usually begin in adulthood, appear “out of the blue” and have no known family history of the disease. With acquired ataxia, there is an external cause, meaning a person developed it because of something that happened during their lifetime.

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 types of cancer, among others.

sporadic ataxia

Through this term is designated a group of diseases of the Central Nervous System that occur without evidence that they are hereditary. The term refers to changes in brain structures that result in the loss of nerve cells in these particular locations in the brain: the inferior olive, the pons, and the cerebellum. This group of diseases is classified as “neurodegenerative” because the nerve cells in these structures (and often in several others) gradually disappear over time with no known cause.

Doctors often use multiple terms when making a diagnosis of sporadic ataxia. Some of these include: Olivopontocerebellar atrophy, Olivopontocerebellar degeneration, Late-onset idiopathic cerebellar atrophy or degeneration.

multiple system atrophy

In some people, the symptoms of sporadic ataxia are a prelude to the development of multiple system atrophy, which includes ataxia, parkinsonian features (such as stiffness and slowness of movement), and difficulty with the autonomic nervous system.

The autonomic nervous system controls the automatic functioning of the body, including regulation of blood pressure, digestion, bladder and bowel function, some sexual functions, and sweating. People with Multiple System Atrophy, whose symptoms begin with sporadic ataxia, may develop Parkinson’s symptoms such as slowness and stiffness of movement along with difficulty turning in bed and getting up from any surface or seat.

We hope that you have understood the Types of ataxia.