Friedreich’s Ataxia: Symptoms, Causes And Treatment
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 are characterized by being highly disabling.
One of these pathologies with serious symptoms is Friedreich’s ataxia, a rare neurological disease of rapid progression that can end the person’s life before fully reaching adulthood. Below we detail what this condition consists of, as well as its symptoms, causes and possible treatments.
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 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 and the myelin insulation of nerve cells decreases, which interferes with the transmission of electrical impulses through the nerves.
This deterioration causes extensive damage to the muscles and heart of those who suffer from it and, as a consequence, patients experience a large number of symptoms that usually end with a complete loss of total autonomy. Therefore, in a relatively short period, the patient ends up needing the help of a wheelchair as well as the attention 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 as they enter adulthood. Among them are a lack of sensitivity, alterations in the ability to coordinate movements, spinal problems difficulties swallowing and articulating sounds or immunodeficiency.
Furthermore, people with this type of ataxia are very likely to develop some type of cancer, as well as diabetes and cardiac disorders which, in most cases, end the patient’s life.
According to the latest estimates, the incidence of Friedreich’s ataxia is approximately 1 in every 50,000 people in the general population, and A higher prevalence has not been detected in either sex
What symptoms does it present?
The first symptoms that may lead one 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, involuntary movements of the eyeballs.
These alterations in the lower extremities cause great difficulties in the coordination of the movements necessary to walk These symptoms gradually worsen, spreading to the upper extremities and trunk. Eventually, the muscles weaken and atrophy, which leads to the development of a large number of malformations.
Due to the cardiac abnormalities or problems that usually accompany Friedreich’s ataxia, such as myocarditis or myocardial fibrosis, patients tend to experience symptoms such as severe chest pain, a feeling of suffocation and tachycardia, rapid palpitations, or even heart failure.
It is necessary to specify that 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 appearance of the initial symptoms; becoming completely incapacitated as the later phases 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 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” or fraxatin gene This genetic alteration causes the affected person’s body 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.
On the other hand, motor neurons also suffer a high risk of being damaged by these highly reactive molecules, thus causing the degeneration typical 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 may be performed:
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 symptomatic treatment that helps improve the quality of life of these patients.
Regarding physical symptoms, The patient can be treated to reduce motor problems through physical therapy as well as surgical interventions or orthopedic devices that slow the progression of malformations in the spine and lower extremities.
In cases where other conditions generated by ataxia appear, such as diabetes or heart problems, these will be treated through the corresponding interventions or medications. Typically, these treatments They are also accompanied by psychotherapy and speech therapy
Regarding the health prognosis for patients with Friedreich’s ataxia, this is quite guarded, depending on the severity of the symptoms and how quickly they progress, life expectancy can be seriously affected.
In most cases, people die during early adulthood, especially if there are severe heart problems. However, in less severe cases patients can live much longer.
