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Friedreich's ataxia: symptoms, causes and treatment

Friedreich's ataxia: symptoms, causes and treatment

June 21, 2022

Diseases that affect the nervous system, causing the degeneration of the cells of this, are many and very varied in terms of the amount and severity of symptoms. Most are characterized by being highly disabling.

One of these pathologies with severe symptoms is Friedreich's ataxia, a rare neurological disease of rapid advance that can end the life of the person before reaching adulthood completely. 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 strange condition that was first described in the year 1860 by the German neurologist Nicholas Friedreich. This type of ataxia was documented as a hereditary neurodegenerative disease . Specifically, Friedreich's ataxia is transmitted by an autosomal recessive pattern, which causes gradual degeneration of the cerebellum and dorsal spinal ganglia in patients.

Also, the nervous tissue of the spinal cord is worn down, which gradually thinns and the myelin isolation of the nerve cells decreases, which interferes with the transmission of electrical impulses through the 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 usually end with a total loss of total autonomy. Therefore, in a relatively short period, the patient ends up needing the help of a wheelchair , as well as the care and attention of another person.

These symptoms tend to appear between 5 and 15 years of age. However, they can begin much earlier, when the person is still in early childhood, or much later already entering adulthood. Among them are a lack of sensitivity, alterations in the ability to coordinate movements, spinal problems , difficulties to swallow and to articulate 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 cardiac changes which, in most cases, end with 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 no higher prevalence has been detected in either sex .

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What symptoms does it present?

The first symptoms that can make one suspect that a person suffers from Friedreich's ataxia have to appear in the movement of the feet and eyes. Among the most common signs are the involuntary flexion of the toes or the 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 extending to the upper extremities and the trunk. Finally, the muscles weaken and atrophy, which leads to the development of a large number of malformations.

Because of abnormalities or heart problems that often accompany Friedreich's ataxia, such as myocarditis or myocardial fibrosis, patients tend to experience symptoms such as severe chest pains, suffocation and tachycardia, acceleration of palpitations or, even, heart failure.

Among the many symptoms typical of this type of ataxia are:

  • 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 the vibration in the legs.
  • Vision problems .
  • Spasmodic 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 onset of the initial symptoms; being completely incapacitated 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 transmit a copy of the defective gene. Hence, its incidence is so low.

However, there are certain cases in which no family history of the disease could be detected; which indicates that genetic mutations can also occur spontaneously.

The specific gene in which the alteration occurs is the so-called "X25" gene or fraxatin . 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, the heart and the pancreas to be "oxidized" by the effect that free radicals cause in them.

On the other hand, motor neurons also suffer a high risk of being damaged by these highly reactive molecules, thus causing the degeneration characteristic 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 it 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).
  • Study of nerve conduction .
  • Magnetic resonance imaging (MRI) and computerized axial tomography (CT) analysis of the brain and spinal cord.
  • Analysis of the cerebrospinal fluid.
  • Blood and urine tests
  • Genetic tests .

What is the treatment and prognosis?

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

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

In cases in which other conditions caused by ataxia appear, such as diabetes or heart problems, these will be treated through appropriate interventions or medications. Usually, these treatments they are also accompanied by psychotherapy and logopedic therapy .

As for the health prognosis for patients with Friedreich's ataxia, this is quite reserved, depending on the severity of the symptoms and the speed with which they advance, the life expectancy can be seriously 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 longer.

Living with Ataxia (June 2022).

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