Friedreich's ataxia: symptoms, causes and treatment

The diseases that affect the nervous system, causing the degeneration of its cells, are many and varied in terms of the number and severity of the symptoms. Most are characterized by being highly disabling.

One of these pathologies with severe symptoms is Friedreich's ataxia, a rare neurological disease rapid progress that can end the life of the person before fully reaching adulthood. Below we detail what this condition consists of, as well as its symptoms, causes and possible treatments.

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What is Friedreich's Ataxia?

Friedreich's Ataxia is a rare condition that was first described in the year 1860 by the German neurologist Nicholas Friedreich. This type of ataxia was documented as an inherited neurodegenerative disease. Specifically, Friedreich's ataxia is transmitted through an autosomal recessive pattern, which causes gradual degeneration of the cerebellum and dorsal spinal ganglia in patients.

Likewise, wear and tear of the nervous tissue of the spinal cord occurs, which gradually thins out and diminishes the myelin insulation of nerve cells, which interferes with the transmission of electrical impulses through nerve cells nerves.

This deterioration causes great damage to the muscles and heart of those who suffer it and, as a consequence, patients experience a large number of symptoms that often end with a complete loss of autonomy total. Therefore, in a relatively short period, the patient ends up requiring the help of a wheelchairas well as the attention and care of another person.

These symptoms tend to appear between 5 and 15 years of age. However, they can start much earlier, when the person is still in early childhood, or much later as they enter adulthood. Among them are a lack of sensation, alterations in the ability to coordinate movements, spinal problems, difficulties swallowing and articulating sounds or immunodeficiency.

In addition, people with this type of ataxia are very likely to develop some type of cancer, as well as diabetes and heart disorders which, in most cases, end the life of the patient.

According to the latest estimates, the incidence of Friedreich's ataxia is approximately 1 in 50,000 people in the general population, and a higher prevalence has not been detected in either of the two sexes.

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What symptoms does it present?

The first symptoms that can lead to suspect that a person suffers from Friedreich's ataxia tend to appear in the movement of the feet and eyes. Among the most common signs are involuntary flexing of the toes or rapid and involuntary movements of the eyeballs.

These alterations in the lower extremities cause great difficulties in coordinating the movements necessary to walk. These symptoms gradually worsen, spreading to the upper extremities and the trunk. Eventually, the muscles weaken and atrophy, leading to the development of a large number of malformations.

Because of the heart abnormalities or problems that often accompany Friedreich's ataxia, such as myocarditis or myocardial fibrosis, patients they tend to experience symptoms such as severe chest pain, a feeling of suffocation and tachycardia, rapid heartbeat or even failure cardiac.

The many symptoms of this type of ataxia include:

• Alterations in the spine such as scoliosis or kyphoscoliosis.
• Loss of reflexes in the lower extremities.
• Walking clumsy and uncoordinated.
• loss of balance.
• Muscular weakness.
• Insensitivity to vibration in the legs.
• Vision problems.
• Jerky movements of the eyeballs.
• hearing loss or decreased hearing ability.
• Alterations in the ability to speak.

It is necessary to specify that the symptoms may vary from one person to another, both in quantity and intensity. However, in the usual progression of the disease, the person is forced to need a wheelchair between 15 and 20 years after the appearance of the initial symptoms; becoming completely disabled as the later stages of ataxia develop.

What are the causes?

As mentioned at the beginning of the article, Friedreich's ataxia It is distinguished by being a hereditary disease which follows an autosomal recessive pattern.. This means that for a person to inherit it, both parents must pass on a copy of the faulty gene. Hence its incidence is so low.

However, there are certain cases in which a family history of the disease could not be detected; indicating that genetic mutations can also occur spontaneously.

The specific gene in which the alteration occurs is the so-called "X25" or fraxatin gene.. This genetic alteration causes the body of the affected person to generate abnormally high levels of iron in the heart tissue. This accumulation of iron causes the nervous system, heart and pancreas to "oxidize" due to the effect that free radicals have on them.

Furthermore, motor neurons are also at high risk of being damaged by these highly reactive molecules, thus causing the degeneration of Friedreich's ataxia.

How can it be diagnosed?

Due to the complexity of the disease, as well as the severity of the symptoms, the diagnosis of Friedreich's ataxia requires a thorough clinical evaluation. The diagnosis is based on the analysis of the medical history and a thorough physical examination for which the following tests can be performed:

• Measurement of muscle cell activity with an electromyogram (EMG).
• Electrocardiogram (ECG).
• Nerve conduction study.
• Analysis of magnetic resonance images (MRI) and computerized axial tomography (CT) of the brain and spinal cord.
• analysis of cerebrospinal fluid.
• Blood and urine tests.
• genetic testing.

What is the treatment and prognosis?

As with many other neurodegenerative disorders, an effective treatment for Friedreich's ataxia has not yet been established. For the moment, the action protocol is based on a symptomatic treatment that helps to improve the quality of life of these patients.

Regarding the physical symptoms, the patient can be treated to decrease motor problems through physical therapy, as well as surgical interventions or orthopedic devices that reduce the progression of malformations in the spine and lower extremities.

In cases where other conditions caused by ataxia appear, such as diabetes or heart problems, these will be treated by interventions or medications corresponding. Usually these treatments They are also accompanied by psychotherapy and speech therapy.

Regarding the health prognosis for patients with Friedreich's ataxia, it is quite guarded, depending on the severity of the symptoms and the speed with which they progress, life expectancy can be seriously affected affected.

In most cases, people die during the first stage of adulthood, especially if there are severe heart problems. However, in less severe cases, patients can live much longer.