Friedreich's ataxia

The Friedreich's ataxia is a genetically determined neurological disease. Symptoms are mainly paralysis, often heart failure and diabetes. There is no causal therapy. The main medical task in the treatment of Friedreich's ataxia is to alleviate the symptoms.

What is Friedreich's Ataxia?

Friedreich's ataxia is inherited recessively. This means that the “sick” gene must be passed on from both parents to their offspring in order to trigger the disease.
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Friedreich's ataxia is what doctors call a hereditary disease that leads to the degeneration of certain spinal ganglia (spinal cord nerves) and brain cells.

In addition to these neurological changes, heart muscle cells can also be affected. The most noticeable symptom of the clinical picture is a disorder of movement coordination ("ataxia"). Diabetes can also occur, and many patients also have deformities of the feet (e.g. archesus) or the spine.

It is controversial whether a change in personality really belongs to the clinical picture. The adolescent dementia observed in the course of Friedreich's ataxia could also have other causes. The Würzburg pathologist Nikolaus A. Friedreich (1825 - 1882) described the disease named after him. According to statistics, there is one case of Friedreich's ataxia for every 50,000 births.

causes

Friedreich's ataxia is inherited recessively. This means that the “sick” gene must be passed on from both parents to their offspring in order to trigger the disease. If a child inherits the defective gene from only one parent, it does not become ill itself.

But such a person is the carrier of the defective chromosome and can pass it on to the following generation. Every hundredth person is said to have the faulty gene on a chromosome.

The consequence of the disturbed gene control is a degeneration of the posterior cord tract. These spinal cord nerves carry sensory perceptions into the brain. On the other hand, nerve fibers that lead from the cerebellum to the muscles, i.e. control movement, atrophy. Sometimes the cerebellar cortex itself also degenerates. Why diabetes can occur in parallel to the other symptoms is a not yet understood effect of Friedreich's ataxia.

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Symptoms, ailments & signs

Friedreich's ataxia is characterized by a variety of symptoms. Usually the symptoms are noticeable up to the age of 25. However, these are initially harmless, so that they are often far from being recognized as a sign of illness.

As the name suggests, a variety of ataxias (disordered and uncoordinated movements) occur, which become increasingly stronger in the course of life. Often these movement disorders are initially not consciously perceived. The most striking symptom reported is a penguin-like gait of the affected children. The ataxias are also related to sensory disorders.

In addition to ataxia, there is also a loss of depth and surface sensitivity. The nerve damage triggers speech disorders, spasticity, difficulty swallowing, uncontrolled eye movements (nystagmus) and emptying of the rectum and urinary bladder. Orthopedic symptoms of the musculoskeletal system such as kyphosis, scoliosis or a pesus also occur. Cardiomyopathy, diabetes mellitus, deterioration in hearing or stunting of the optic nerve are also observed.

Psychiatric abnormalities such as presence dementia or personality changes also occur. In the case of psychiatric symptoms, however, it is not clear whether they belong to the overall clinical picture or arise as a result of the patient's impaired quality of life. Friedreich's ataxia is incurable. It progresses progressively and can only be treated symptomatically. The life expectancy of those affected is limited by cardiomyopathy.

Diagnosis & course

Friedreich's ataxia is now diagnosed using the methods of molecular genetics. This happens after atactic symptoms alert the neurologist. Usually this is not the case until the age of 25. Then the course of the disease begins with a slight handicap, which is accompanied by balance disorders.

The dexterity of the hands decreases and the arm movements become increasingly insecure. An increasingly worsening speech disorder is also noticeable. Patients complain of a decrease in the intensity of their sense of touch and depth of sensitivity. This is understood to mean sensations from the center of the body.

However, the patient is troubled by the progressive paralysis that leads to the need for care. After all, an often added cardiac muscle weakness is one of the most common causes of death in Friedreich's ataxia.

Complications

In most cases Friedreich's ataxia leads to paralysis in various parts of the body. The paralysis leads to severe coordination disorders. A purposeful and upright gait is usually no longer possible, so that the patient is dependent on walking aids or support.

As a rule, there are also sensory disorders and disorders of sensitivity. Children can develop spasticity or speech disorders. These are particularly affected by Friedreich's ataxia, as the symptoms can cause them to be bullied. This often leads to psychological difficulties.

Most patients also suffer from heart problems and diabetes. As a result, everyday life is increasingly restricted and the quality of life is reduced. Direct treatment of Friedreich's ataxia cannot be carried out. For this reason, there are no further complications.

However, it is possible to reduce the symptoms of ataxia. This is mainly done with drugs, vitamins and physiotherapy. The heart problems can be avoided through a strict diet and healthy lifestyle, the same applies to diabetes. Life expectancy is generally not reduced in Friedreich's ataxia.

When should you go to the doctor?

In Friedreich's ataxia, a doctor must always be consulted. This disease does not self-heal, so that those affected are always dependent on an examination and treatment by a doctor. A doctor should then be consulted if the patient suffers from gait disorders or motor disorders.

The patient's gait is clearly unsettled and paralysis or other sensory disorders occur. Furthermore, medical treatment is necessary if the person concerned suffers from speech difficulties or from spasticity. Changes in personality, general confusion or dementia can also indicate Friedreich's ataxia. Many patients also have diabetes or heart failure.

As a rule, a general practitioner or a pediatrician can be seen in Friedreich's ataxia. This makes the diagnosis of the disease. However, further treatment is then carried out by various specialists, since Friedreich's ataxia can only be treated symptomatically. A completely positive course of the disease cannot be achieved in most cases, but the quality of life of the person affected is considerably improved by the treatment.

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Treatment & Therapy

The cause of Friedreich's ataxia cannot be treated. Because doctors are not yet able to intervene in a disturbed gene metabolism. A medicinal approach is limited to the administration of vitamins E and similar, partly synthetic substances. The aim of this medication is to protect the damaged nerve cells from additional physiological stress. The pharmaceuticals used act as radical scavengers, i.e. they eliminate aggressive metabolic products.

Further measures serve to alleviate the symptoms. The focus is on maintaining mobility, so the possibilities of physiotherapy should be exhausted. In any case, patients are entitled to inpatient rehabilitation measures. Therapy with a speech therapist is also part of the treatment to improve voice quality and articulation. Occupational therapy efforts improve both mobility and the social integration of patients.

As a further aspect, the changes in the feet and the spine must always be taken into account. This is where the orthopedic surgeon is asked to support the patient with the adjustment of orthoses or similar measures.

No less important is the treatment of the frequent cardiac muscle weakness and cardiac arrhythmias. In view of this, the cardiologist will initiate drug treatment. If diabetes mellitus manifests itself, diet and possibly insulin injections are required. This consequence of Friedreich's ataxia should also be taken seriously.

Outlook & forecast

Friedreich's ataxia is a congenital disease. A causal treatment is not possible. Therapy focuses on symptom relief, but promises a relatively positive prognosis. If the disease is detected early, ideally in early childhood, treatment is effective. The various neurological, cardiological and orthopedic symptoms can be reliably alleviated thanks to modern therapy methods. Therapy has a positive effect on psychological complaints.

However, the prognosis also depends on the severity of the disease. Friedreich's ataxia, which manifests itself through disturbances in the ability to think or through changes in personality, can only be treated in the long term with permanent medication. This can lead to various physical and psychological complications which make an accurate prognosis difficult. It can also lead to cardiovascular complaints that carry the risk of a heart attack or other serious health problems.

If the course is severe, the quality of life is increasingly reduced. Life expectancy can also be limited, although Friedreich's ataxia itself has no influence. The prognosis for Friedreich's disease is based on a large number of factors and circumstances that must be taken into account by the doctor.

You can find your medication here

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prevention

It is not possible to prevent Friedreich's ataxia because it is a hereditary disease. A diagnosis as early as possible is certainly useful for symptomatic intervention. Here parents have to decide whether they want to subject their child to a general molecular genetic test. This is the only way for the doctor to diagnose Friedreich's ataxia very early.

Aftercare

In Friedreich's ataxia, in most cases there are no special follow-up options available to the patient. A complete treatment of this disease is usually not possible either, so that the person affected is dependent on lifelong therapy in order to permanently alleviate the symptoms and enable normal everyday life. The life expectancy of the person affected is also significantly restricted by Friedreich's ataxia.

In most cases, patients rely on medication to relieve symptoms. It is important to ensure that it is taken regularly, and possible interactions with other medicinal products must also be taken into account. A doctor should therefore always be consulted in cases of doubt. Furthermore, physiotherapy measures are often necessary to treat Friedreich's ataxia.

Many of the exercises from this therapy can also be performed in your own home and thereby promote healing. Since Friedreich's ataxia can also lead to heart problems, regular examinations of the heart and other internal organs are very useful. A proper diet is also important to prevent diabetes. In general, a healthy lifestyle with a healthy diet has a positive effect on the further course of Friedreich's ataxia.

You can do that yourself

In everyday life, the patient and their relatives face major challenges in coping with the disease. Due to the increasing problems of physical motor skills and the shortened life expectancy, all those involved need mental strength and various options for improving the existing quality of life.

In order to compensate for the increasing speech disorders, the patient and their relatives should find a way in good time to be able to communicate adequately with one another in everyday life even without words. The use of sign language, as well as some form of sign language, are tools that you can use.

Writing will also cause difficulties in the course of the illness, but in addition to the use of digital aids, it would be a possibility for mutual exchange. Therapists, forums or self-help groups help to support mental strengthening. An exchange of all mental stresses can take place and thus improve well-being.

Common leisure activities should continue unabated. Social withdrawal is not recommended because in most cases it will not have a positive effect on health. If the patient can no longer move sufficiently on his own, it is helpful if relatives or nursing staff spend time with him in the fresh air. The immune system should be supported by a healthy diet so that the risk of infection is kept to a minimum.