Friedreich’s ataxia: symptoms, causes and treatment

This neurodegenerative disease causes a wasting of the ability to move people.

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

One of these pathologies with severe symptoms is Friedreich's ataxia, a rare, rapidly progressive neurological disease that may disease that can end a person's life before he or she reaches adulthood. Below we detail what this condition consists of, as well as its symptoms, causes and possible treatments.

What is Friedreich's Ataxia?

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

It also causes wear and tear of the nerve tissue of the spinal cord, which gradually thins and the myelin insulation of the nerve cells decreases, interfering with the transmission of electrical impulses through the nerves.

This deterioration causes extensive damage to the muscles and heart of sufferers and, as a consequence, patients experience a large number of symptoms that often result in a complete loss of total autonomy. Therefore, in a relatively short period of time, the patient ends up needing the assistance of a wheelchairas well as the attentions and care 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 and entering adulthood. They include a lack of sensation, alterations in the ability to coordinate movements, spinal problems, swallowing and articulation difficulties.These include a lack of sensitivity, impaired ability to coordinate movements, spinal problems, swallowing and articulation difficulties, 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 alterations 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 persons in the general population, with no increased prevalence in either sex. a higher prevalence has not been detected in either sex..

What are the symptoms?

The first symptoms that may lead to 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 involuntary flexion of the toes or rapid and involuntary movements of the eyeballs.

These disturbances in the lower extremities cause great difficulties in coordinating the movements necessary for walking.. These symptoms gradually worsen and spread to the upper extremities and trunk. Eventually, the muscles weaken and atrophy, which gives way to the development of a large number of malformations.

Because of the cardiac abnormalities or problems that often accompany Friedreich's ataxia, such as myocarditis or myocardial fibrosis, patients tend to experience symptoms such as severe chest pains, choking sensations and tachycardias, accelerated palpitations or even heart failure.

Among the many symptoms characteristic of this type of ataxia include:

• Alterations in the spine such as scoliosis or kyphoscoliosis.
• Loss of reflexes in the lower extremities.
• Clumsy and uncoordinated gait.
• Loss of balance..
• Muscle weakness.
• Insensitivity to vibration in the legs.
• Vision problems.
• Spasmodic movements of the eyeballs.
• Hearing loss or diminution of the auditory capacity.
• Alterations in the ability to speak.

It is necessary to specify that 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; 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 is distinguished by the fact that it is a disease of the brain. is a hereditary disease which follows an autosomal recessive pattern.. This means that in order for a person to inherit it, both parents must transmit a copy of the defective gene. That is why its incidence is so low.

However, there are certain cases in which no family history of the disease could 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 "rust" 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 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 can be made in the following ways requires a thorough clinical evaluation. 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).
• Nerve conduction study.
• Magnetic resonance imaging (MRI) and computed axial tomography (CT) analysis of the brain and spinal cord.
• Cerebrospinal fluid analysis.
• 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 time being, the protocol is based on symptomatic treatment to help improve the quality of life of these patients.

As for the physical symptoms, the patient can be treated to reduce motor problems by means of physical therapy, as well as surgical interventions or orthopedic devicesIn cases in which other conditions generated by ataxia appear, such as diabetes or cardiac problems, these will be treated by surgical interventions or orthopedic devices to slow the progression of the malformations in the spine and lower extremities.

In cases in which other conditions generated by ataxia appear, such as diabetes or heart problems, these will be treated by means of the corresponding interventions or medications. Usually, these treatments are also accompanied by psychotherapy. are also accompanied by psychotherapy and speech therapy..

The health prognosis for patients with Friedreich's ataxia is quite guarded, depending on the severity of the symptoms and how quickly they progress, life expectancy can be severely affected.

In most cases, people die during early adulthood, especially if there are severe cardiac problems. However, in less severe cases, patients may live much longer.