Ataxia – what is it, what are its mechanisms and how are it treated?

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A shaky step, problems with maintaining balance or slurred speech are most often associated with acting after consuming too much alcohol or other intoxicants. In fact, these symptoms could be a symptom of a serious illness such as ataxia. Its essence is incorrect interaction of muscles, difficulty in maintaining balance and motor coordination, as well as problems with clear speech and correct vision. What is ataxia? What can cause it and how to recognize it?

What is ataxia?

Ataxia, otherwise known as incoherence, owes its name to a word that comes from the Greek language meaning “without order”. Ataxia is a disorder of the locomotor system as a result of damage to the structures responsible for motor coordination.

Ataxia causes problems in maintaining balance and carrying out movements smoothly and accurately. The coordination of movements depends on the proper functioning of the nervous system and damage to any of its elements may lead to ataxia. The most common factor contributing to the appearance of ataxia is damage to the spinal cord or the cerebellum.

The spinal cord transmits information from receptors located in the muscles to the cerebellum. It is designed to control the operation of various muscle groups. Damage to any structure causes ataxia, and then the coordination of muscles is disturbed, but not their strength. Ataxia is a disorder that can significantly hinder the daily functioning of patients. The simplest activities such as grabbing objects, walking or talking turn out to be impossible and become enormous a challenge for a person with ataxia.

If you want to find out what fine motor skills are and learn about its disorders, check out: Fine motor skills – characteristics, disorders and developing exercises

What are the causes of ataxia?

Ataxia as a neurological symptom can have many causes. Muscle groups can function properly due to the interaction of various structures of the nervous system. Damage to one of the elements may cause disturbances in proper movement and the appearance of ataxia. The onset of ataxia is the result of damage to the brain, spinal cord, or nerves, but the most common cause is damage to the cerebellum.

The reasons cerebellar ataxia are mainly:

1. a cerebellar tumor or metastasis from another organ such as medulloblastoma, astrocytoma and hemangioma;
2. vascular damage to the cerebellum, that is, stroke;
3. thyroid disease – hypothyroidism;
4. viral inflammation and infections of the cerebellum, for example: HIV;
5. multiple sclerosis, a demyelinating disease of the nervous system;
6. celiac disease;
7. subacute sclerosing encephalitis complication of measles;
8. Wilson’s disease, which is genetically determined, and its cause is a mutation in the ATP7B gene. This disease causes pathological copper deposition in the body;
9. toxic damage to the cerebellum from the consumption of large amounts of alcohol, drugs or certain medications, or carbon dioxide poisoning;
10. deficiency of vitamin E, vitamins B1 and B12 in the body.

In the case of sensory ataxia the main reasons include:

1. damage to the spinal cord as a result of degeneration of the spine or in the event of a mechanical injury;
2. damage to the sensory ganglia as a result of a cancer disease
3. Guillain-Barry syndrome – immune-related diseases affecting peripheral nerves;
4. diabetic complications, e.g. hypoglycaemia, as a result of which the nerves are damaged, the so-called diabetic neuropathy;
5. nerve damage caused by treatment with vincristine used in chemotherapy or the anti-tuberculosis drug isoniazid;
6. heavy metal poisoning;
7. multiple sclerosis.

Summarizing all causes that provoke ataxia, they can be divided into three main groups:

1. neurodegenerative diseases causing loss of nerve cells;
2. congenital causesthat may be genetic or hereditary
3. metabolic diseases such as, for example, hypoglycaemia. 

Do you know what is spinal muscular atrophy? When should the appropriate tests be performed? Check: Examination for SMA. Find out if your child has spinal muscular atrophy

Types of ataxia

One of the divisions of ataxia is because of its cause. We highlight here cerebellar ataxia and sensory ataxia.

The first is related to damage to the cerebellum, which is part of the hindbrain. The cerebellum is responsible for controlling the body’s motor skills and is responsible for the correctness, precision and duration of movements. Due to the proper functioning of the cerebellum, the muscle groups are controlled and the intended movement is performed correctly.

The second type of ataxia, or sensory, is caused by an interruption of the pathways that conduct deep sensation or by damage to the posterior cords of the spinal cord. Deep feeling is responsible for informing about the position of our body, while the back cords are responsible for discriminatory feeling consisting in the ability to distinguish two stimuli acting on our body simultaneously.

Thanks to three basic elements, we can distinguish with which a kind of ataxia we are dealing. The first is nystagmus, which is the involuntary and rhythmic movement of the eyeballs. This symptom is characteristic of cerebellar ataxia.

Another element is the disorder of speech function, which does not occur in the case of sensory ataxia, but is a characteristic symptom of cerebellar ataxia.

The last element is the sense of positioning your own body, i.e. deep sensation, the disturbance of which is characteristic of sensory ataxia and does not occur in the case of cerebellar ataxia.

Another division of ataxia speaks of two types – congenital and acquired. Congenital ataxia it is related to the genetic burden. One of them is heredoataxia, which can occur in various forms. In the case of dominant genes, spinocerebellar ataxia and episodic ataxia are inherited. In contrast, recessive genes are responsible for Friedreich’s ataxia.

Friedreich’s ataxia is a genetic disease that damages the nervous system and the heart muscle. The first symptoms may appear before the age of 20 and are initially characterized by gait ataxia, i.e. difficulties and late start of walking in children, and later on, impaired motor coordination. Typically, the disease can be associated with optic atrophy and mental retardation, and the patient’s life is usually not saved after diagnosis.

Another type of ataxia is type 1 spinocerebellar ataxia. Its occurrence is caused by the mutation of the ATXN1 gene, which contains the instructions for creating ataxin-1. Cerebellar ataxia manifests itself as a problem in maintaining balance, mainly it is an unsteady gait, difficulty in maintaining an upright position of the body, rhythmic head movements. As a result of the disease progression, there may be complete muscle relaxation, dyssynergy, i.e. disturbance of the fluidity of movements, dysmetria – inability to stop at any moment, trembling of the limbs, painful muscle contractions, problems with eyesight and nystagmus.

The last type of ataxia is ataxia telangiectasia, i.e. Louis-Bar syndrome. This disease is hereditary, depends on recessive genes and develops in childhood. The classic symptom of telangiectasia ataxia is imbalance, widening of the ears and conjunctiva, nystagmus, slurred speech, delayed puberty, and frequent respiratory tract infection. In order to diagnose this type of ataxia, an AFO (Alpha-fetoprotein) test is performed or the behavior of white blood cells due to X-rays is observed.

What is worth knowing about proper maturation? Check: The physiology of puberty

How is ataxia manifested?

Diagnose ataxia it is often very difficult because in the initial phase it does not arouse anxiety in a sick person and is confused with awkwardness in movement. Most often, a visit to a doctor allows the diagnosis of ataxia and the patient’s awareness of the problem that has affected him. Although the symptoms of ataxia are not easy to observe, especially in the early stages of the disease, it is worth learning about the classic symptoms that can alert our vigilance.

The first symptom that appears at the beginning is a gait disturbance. This usually manifests itself in the so-called a sailor’s gait, i.e. walking on a wide base due to the wide spacing of the legs. The gait disturbance can also be manifested by the inability to move along a straight line or fall to one side.

Another symptom is the difficulty in making fast alternating movements, the so-called postponed chokineza. For example, the difficulty of hitting the knee on the inside and on the outside of the hand alternately.

People with ataxia often have problems with clear speech, the so-called dysarthria and incorrect intonation, they have problems with articulating sounds and words.

In addition, patients experience eye problems such as nystagmus, i.e. involuntary and uncontrolled eye movements and visual disturbances.

Another symptom that allows the doctor to notice a problem in the proper functioning of the cerebellum is dysmetry, which is associated with an incorrect assessment of the distance by the patient. During the examination, the person has difficulty touching the nose with the index finger while the eyes are closed at the same time.

People with ataxia experience difficulties in making precise movements, and they often experience hypotension, i.e. reduction in muscle tension and firmness. Patients with ataxia often have difficulty grasping objects or fastening and unfastening buttons due to increasing hand tremors and uncoordinated, clumsy hand movements.

In the case of sensory ataxia, the patient may have a problem with locating parts of his body, not feeling their position and position. Ataxia can also affect cognitive changes in thought processes and affect emotional changes that cause emotional instability.

Can dilated pupils be a symptom of a serious illness? Read: Dilated pupils – possible causes and what to do in this case

How is ataxia diagnosed?

The first stage of the diagnosis of ataxia it is the observation of the patient’s own organism. If you notice any features that may indicate damage to the nervous system, such as difficulty walking, impaired motor coordination, problems with speaking, problems with grasping objects, you should see a doctor as soon as possible.

In cases where the above symptoms are developing, gradual, you can go to your primary care physician who may refer you to a neurologist appointment for an accurate diagnosis. However, when the symptoms are sudden, it is necessary to immediately call an ambulance or go to the emergency department.

The first visit to a neurologist will start with a thorough interview with the patient. The doctor will ask you about the presence of similar symptoms in your immediate family, about the time of occurrence of the symptoms, the circumstances of their occurrence, or factors that exacerbate them. The doctor will also ask about other accompanying diseases or the medications you take on a daily basis, as well as the use of stimulants such as alcohol, drugs or other psychoactive substances.

After a thorough interview, the doctor will conduct a detailed neurological examination. You may be asked to take a short walk around the office from which your doctor will assess your gait, stability, and fluidity, or you may be asked to write a short text or perform some basic tests that can help diagnose ataxia.

Among these tests, there are 5 basic ones:

1. knee – heelwhere the patient is lying down and is asked to place his heel on the knee of the other leg and slide it down the tibial spine;
2. finger – nose, the patient must touch his own nose with his index finger, and then touch the doctor with his eyes closed;
3. alternating exerciseswhere the physician asks the patient to quickly flip both hands over simultaneously;
4. psychodiagnoza – i.e. a neuropsychological examination aimed at assessing the patient’s executive functions;
5. electromyogram– which is a study of nerve conduction.

After collecting the interview and after the neurological examination, depending on its result, the doctor may order additional tests.

The tests that can help in making a diagnosis include: laboratory tests of blood, urine, cerebrospinal fluid, imaging tests such as: computed tomography of the brain (CT) or magnetic resonance imaging of the brain (MRI) and spinal cord. Common tests recommended by a neurologist when ataxia are suspected include genetic testing, neuropsychological testing, nerve conduction testing, and electromyography (ENG / EMG).

The performed tests allow the neurologist to make a diagnosis which, in the case of confirmation of ataxia, allows to determine its type and possible causes. The symptoms of ataxia should not be underestimated, as they may indicate a serious disease such as multiple sclerosis, cerebellar stroke.

How much does genetic testing cost and when is it worth doing? Check: Genetic research – benefits, course, costs

How is ataxia treated?

Once a patient is diagnosed with ataxia, it is very important to understand what caused it. Usually, the treatment of ataxia consists in eliminating the causes of this ailment.

When ataxia is a result of taking drugs or poisoning the body with toxins, it is often enough to stop taking them to reduce the symptoms of ataxia. Similarly, treating ataxia caused by vitamin deficiency as well as autoimmune, cancer or metabolic diseases can improve body functions and reduce symptoms. In the case of acquired ataxia, after diagnosing its causes, after appropriate treatment, in many cases it is possible to completely eliminate its symptoms.

However, in the case of congenital ataxia, the prognosis is not very optimistic, and sometimes the treatment itself can be limited to attempts to inhibit or reduce symptoms. Physiotherapists and speech therapists play an important role here, as well as the support of a psychologist, family and loved ones. In most cases, the treatment of ataxia involves rehabilitation and work with a speech therapist, which can significantly improve the functioning of the organs of movement, speech, vision and improve the patient’s quality of life.

How does speech therapy work and when is it worth using? Read: Speech therapy – when and why it is worth visiting a speech therapist

Rehabilitation exercises for people with ataxia

In the treatment of ataxia, the rehabilitation process is very important and should be developed and supervised by a physiotherapist. There are also exercises that you can do with the help of a second person in the comfort of your home.

The first group of exercises is performed using an exercise mat. One exercise involves lying on your back with your legs bent at the knee and your feet on the floor. At the beginning, we turn to the side, then, leaning on the elbow, raise the pelvis and free hand up, holding our breath for about 5 seconds.

Another exercise that helps you keep your balance is the movement, which involves moving from prone to kneeling on all fours while extending one hand and the opposite leg backward at the same time. You should stay in this position for about 5 seconds.

Exercise to help treat ataxia can also be done in a sitting position. For these exercises, you can use a chair or a sit ball and exercise tape. When sitting in a chair or ball, slowly move to a standing position with your back straight and your belly tense.

Another exercise that we will need tape for is when sitting on a chair or a ball, we wrap the tape around the palm of your hand. Our elbows should be close to the body. Then, stretch the tape by moving the forearms outwards, and then draw one leg to the abdomen and hold it in this position for about 5 seconds.

Rehabilitation exercises for ataxia can also be performed while standing. Standing with your belly taut and your back straight, stretch the tape over your head, then carry it behind your head, pulling your shoulder blades down, and slowly return to the starting position.

Another exercise you can do while standing with the webbing is putting yourself in a position with one leg in front of the other leg in the back. The tape, on the other hand, is placed under the front leg. With the arm opposite to the leg, we start stretching the tape as if we wanted to touch the top of the head with it.

Keep in mind that rehabilitation and exercise only work if done regularly. It is also important to exercise under the supervision of a specialist who will be able to correct our movements. This will make the exercises performed more effectively improve our motor coordination.

If you want to know more about rehabilitation, read: Rehabilitation – a way to return to fitness

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