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 amount and severity of symptoms. Most are characterized by severe disability.

One of these pathologies with severe symptoms is Friedreich’s ataxia, a rare neurological disease fast that can end a person’s life before they fully reach adulthood. Below, we detail what this condition is, along with its symptoms, causes, and possible treatments.

    What is Friedreich’s ataxia?

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

    In addition, there is wear and tear on the nervous tissue of the spinal cord, which gradually becomes thinner and decreases myelin isolation from nerve cells, which interferes with the transmission of electrical impulses through the nerves.

    This deterioration causes great damage to the muscles and hearts of those who suffer from it, and as a result, patients experience a large number of symptoms which usually end in complete loss of autonomy. Therefore, in a relatively short period, the patient ends up needing the help of a wheelchair, As well as the attentions and care of another person.

    These symptoms tend to appear between the ages of 5 and 15. However, they can start much earlier, when the person is still in infancy, or much later already in adulthood. Among them are lack of sensitivity, impaired ability to coordinate movements, problems with the spine, Difficulty swallowing and articulating sounds or immune deficiency.

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

    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 was detected in both sexes.

      What are the symptoms?

      The first symptoms that may make you suspect that a person has Friedreich’s ataxia should appear in the movement of the feet and eyes. Among the most common signs are involuntary flexion of the toes or rapid, involuntary movements of the eyeballs.

      These alterations of the lower limbs they cause great difficulty in coordinating the movements necessary for walking. These symptoms gradually worsen and extend to the upper limbs and trunk. Eventually, the muscles weaken and atrophy, which leads to the development of a large number of deformities.

      Due to the 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 pain, suffocation and tachycardia, accelerated palpitations. or even heart failure.

      Among the many symptoms of this type of ataxia are:

      • Spine alterations such as scoliosis or kyphoscoliosis.
      • Loss of reflexes in the lower limbs.
      • Awkward and uncoordinated walk.
      • Loss of equilibrium.
      • Muscular weakness.
      • Insensitivity to vibrations in the legs.
      • Sight problems.
      • Spasmodic movements of the eyeballs.
      • hearing loss or decreased hearing.
      • Changes in the ability to speak.

      It should be noted that the symptoms can 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 first symptoms; become completely unfit as the later stages of ataxia develop.

      What are the causes?

      As mentioned at the beginning of the article, Friedreich’s ataxia is distinguished by an inherited disease that follows an autosomal recessive pattern. This means that in order for a person to inherit, both parents must pass on a copy of the defective gene. Therefore, its impact is so low.

      However, there are some 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” or fraxatin gene.. This genetic disease causes the body of the affected person to generate abnormally high levels of iron in the heart tissue. This build-up of iron causes “oxidation” of the nervous system, heart and pancreas due to the effect that free radicals have on them.

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

      How to diagnose it?

      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 may be performed:

      • Measurement of muscle cell activity with an electromyogram (EMG).
      • Electrocardiogram (ECG).
      • Study of nerve conduction.
      • Magnetic resonance imaging (MRI) and computed tomography (CT) scan of the brain and spinal cord.
      • Analysis of cerebrospinal fluid.
      • Blood and urine analysis.
      • genetic test.

      What is the treatment and prognosis?

      As with many other neurodegenerative disorders, no effective treatment has yet been put in place to end Friedreich’s ataxia. For the time being, the action protocol is based on symptomatic treatment which contributes to improving the quality of life of these patients.

      As for the physical symptoms, the patient can be treated to alleviate motor problems through physical therapy, As well as surgical procedures or orthopedic devices that slow the progression of malformations of the spine and lower limbs.

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

      As for the health prognosis of patients with Friedreich’s ataxia, it is quite reserved, depending on the severity of the symptoms and how quickly they progress, life expectancy can be seriously affected.

      In most cases, people die in the early stages of adulthood, especially with severe heart problems. However, in less severe cases, patients can live much longer.

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