This neurodegenerative disease causes wear and tear on people’s ability to move.
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 being highly disabling.
One of these pathologies with serious symptoms is Friedreich’s ataxia, a rare, rapidly advancing neurological disease that can end a person’s life before fully reaching 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 neurodegenrative disease. Specifically, Friedreich’s ataxia is transmitted through an autosomal recessive pattern, which causes gradual degeneration of the cerebellum and the dorsal spinal ganglia in patients.
Likewise, the nerve tissue of the spinal cord is worn down, which gradually becomes thinner and the myelin isolation of the nerve cells diminishes, which interferes with the transmission of electrical impulses through the nerves.
This deterioration causes great damage to the muscles and the 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 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 into adulthood. These include a lack of sensation, impaired ability to coordinate movements, spinal problems, difficulty swallowing and articulating sounds, or immunodeficiency.
In addition, people with this type of ataxia have a high probability of developing 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.
What symptoms does it present?
The first symptoms that can lead to suspect that a person suffers from Friedreich’s ataxia have to appear in the movement of the feet and the 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 coordinating the movements necessary for walking. 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 heart abnormalities or problems that often 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 rapid heartbeat, rapid heartbeat, or, even heart failure.
The many symptoms associated with this type of ataxia include:
- Spinal disorders such as scoliosis or kyphoscoliosis.
- Loss of reflexes in the lower extremities.
- Clumsy and uncoordinated walking.
- 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 can vary from one person to another, both in quantity and intensity. However, in the usual progress of the disease, the person is forced to need a wheelchair between 15 and 20 years after the appearance of the initial symptoms; being completely incapacitated as the later phases of ataxia develop.
What are the causes?
As mentioned at the beginning of the article, Friedreich’s ataxia 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; 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, the heart and the 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 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 careful 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 tests.
- Genetic testing.
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 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 reduce motor problems through physical therapy, as well as surgical interventions or orthopedic devices that slow the progression of spinal and lower extremity malformations.
In cases where other conditions caused by ataxia appear, such as diabetes or heart problems, these will be treated by the corresponding interventions or medications. These treatments are usually also accompanied by psychotherapy and speech therapy.
Regarding the health prognosis for patients with Friedreich’s ataxia, this 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 during early adulthood, especially if there are severe heart problems. However, in less severe cases, patients can live much longer.