Friedreich’s ataxia is a genetic neurological condition. Symptoms are primarily paralysis, and often include heart failure and diabetes. There is no causal therapy. Alleviating the symptoms is the main medical task in the treatment of Friedreich’s ataxia.
What is Friedreich’s ataxia?
Doctors call Friedreich’s ataxia 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 may also be affected. The most striking symptom of the disease is a disorder of movement coordination (“ataxia”). In addition, diabetes can occur, and many patients also have deformities of the feet (e.g., hollow foot) or the spine. It is controversial whether a change in personality is really part of the clinical picture. The juvenile 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. That is, the “diseased” gene must be passed from both parents to the offspring to cause the disease. If a child inherits the defective gene from only one parent, it will not develop the disease itself. But such a person is a carrier of the defective chromosome and can pass it on to the next generation. Every hundredth person is said to carry the defective gene on a chromosome. The consequence of the disturbed gene control is once a degeneration of the posterior cord nerves. These spinal cord nerves conduct sensory perceptions to the brain. Secondly, nerve fibers that lead from the cerebellum to the muscles, i.e. that control movement, atrophy. Sometimes the cerebellar cortex itself also degenerates. Why diabetes can occur in parallel with the other symptoms is an effect of Friedreich’s ataxia that is not yet understood.
Symptoms, complaints, and signs
Friedreich’s ataxia is characterized by a multifaceted symptomatology. In most cases, the symptoms do become noticeable by the age of 25. However, these are initially harmless, so they are often not recognized as signs of the disease for a long time. As the name suggests, a variety of ataxias (disordered and uncoordinated movements) occur, which become increasingly severe as the patient grows older. Often, these movement disorders are not consciously noticed at first. The most striking symptom reported is a penguin-like gait of the affected children. The ataxias are also associated with sensitivity disorders. Thus, in addition to ataxia, there is also loss of depth and surface sensitivity. The nerve damage causes speech disorders, spasticity, difficulty swallowing, uncontrolled eye movements (nystagmus), and rectal and urinary bladder emptying. Orthopedic musculoskeletal symptoms such as kyphosis, scoliosis, or a hollow foot also occur. Furthermore, the occurrence of cardiomyopathy, diabetes mellitus, deterioration of hearing or atrophy of the optic nerve is observed. Psychiatric abnormalities such as presence dementia or personality changes also occur. However, in the case of psychiatric symptoms, it is not clear whether they are part of the overall clinical picture or arise as a consequence of the patients’ impaired quality of life. Friedreich’s ataxia is not curable. It progresses in a progressive manner and can only be treated symptomatically. The life expectancy of affected individuals is limited by the cardiomyopathy.
Diagnosis and progression
Friedreich ataxia is now diagnosed using the methods of molecular genetics. This is done after ataxic symptoms have brought it to the attention of the neurologist. Usually, this is not the case until the age of 25. Then the course of the disease initially begins with a mild walking disability accompanied by balance disorders. The dexterity of the hands decreases and the arm movements also become increasingly unsteady. A progressively worsening speech disorder is also noticeable. Patients complain of decreasing intensity of the sense of touch and depth sensitivity. This refers to sensations from the center of the body. However, the patients are troubled by the progressive signs of paralysis, which lead to the need for care. Finally, cardiac insufficiency is one of the most frequent causes of death in Friedreich’s ataxia.
Complications
In most cases, Friedreich’s ataxia causes paralysis in various parts of the body. The paralyses cause severe disturbances in coordination. A purposeful and upright gait are usually no longer possible, so that the patient is dependent on walking aids or care. As a rule, there are also sensory disturbances and disturbances of sensitivity. In children, spasticity or speech disorders may develop. These are particularly affected by Friedreich’s ataxia, as they can be bullied because of the symptoms. Not infrequently, this leads to psychological difficulties. Most patients also suffer from heart problems and diabetes. As a result, everyday life becomes increasingly limited and the quality of life is reduced. There is no direct treatment for Friedreich’s ataxia. For this reason, no further complications occur in this case. However, it is possible to alleviate the symptoms of ataxia. This is done mainly with medications, vitamins and physiotherapy. The heart problems can be avoided by a strict diet and a healthy lifestyle, and the same is true for diabetes. Life expectancy is usually not decreased in Friedreich’s ataxia.
When should you see a doctor?
A doctor should always be consulted for Friedreich’s ataxia. There is no self-healing with this condition, so affected individuals are always dependent on examination and treatment by a physician. A doctor should be consulted if the patient suffers from gait disturbances or motor disturbances. In this case, the patient’s gait is clearly disoriented and paralysis or other sensory disturbances occur. Furthermore, medical treatment is also necessary if the affected person suffers from speech difficulties or spasticity. Changes in personality, general confusion or dementia may also be indicative of Friedreich’s ataxia. Many patients also suffer from diabetes or heart failure. Usually, a general practitioner or a pediatrician can be consulted for Friedreich’s ataxia. He or she will diagnose the disease. However, further treatment is then carried out by various specialists, as Friedreich’s ataxia can only be treated symptomatically. Although a completely positive course of the disease cannot be achieved in most cases, the quality of life of the affected person is considerably improved by the treatment.
Treatment and therapy
Friedreich’s ataxia is not causally treatable. This is because doctors are not yet able to intervene in a disturbed gene metabolism. A drug approach is exhausted in 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. Patients are entitled to inpatient rehabilitation measures in any case. Therapy with a speech therapist is also part of the treatment to improve voice quality and articulation. Occupational therapy efforts improve both mobility and social integration of patients. As a further aspect, the changes in the feet as well as the spine must always be taken into account. Here, the orthopedist is called upon to support the patient with the fitting of orthoses or similar measures. No less important is the treatment of the frequently occurring cardiac muscle weakness as well as cardiac arrhythmia. In view of this, the cardiologist will initiate drug treatment. If diabetes mellitus manifests itself, a diet is required, possibly also insulin injections. Because this sequela of Friedreich’s ataxia should also be taken seriously.
Outlook and prognosis
Friedreich’s ataxia is a congenital disorder. There is no causative treatment available. Therapy focuses on alleviating symptoms but promises a relatively positive prognosis. If the condition is detected early, ideally during early childhood, treatment is effective.The various neurological, cardiological and orthopedic symptoms can be reliably alleviated thanks to modern therapy methods. In the case of psychological complaints, therapy shows a positive effect. However, the prognosis also depends on the severity of the disease. Friedreich’s ataxia, which manifests itself by disturbances of the ability to think or by changes of character, can only be treated in the long term by long-term medication. As a result, various physical and psychological complications can occur, which make an accurate prognosis difficult. Cardiovascular problems may also occur, which carry the risk of a heart attack or other serious health problems. In a severe course, the quality of life is increasingly reduced. Life expectancy may also be limited, although Friedreich’s ataxia itself has no effect on this. Thus, the prognosis for Friedreich’s disease is based on a variety of factors and circumstances that must be considered by the physician.
Prevention
It is not possible to prevent Friedreich’s ataxia because it is a hereditary disease. 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. Only in this way will the physician diagnose Friedreich’s ataxia at a very early stage.
Follow-up
In most cases of Friedreich’s ataxia, the patient does not have any special options for follow-up care. Complete treatment of this disease is also usually not possible, so the affected person is dependent on lifelong therapy to provide lasting relief from the symptoms and to enable him or her to lead an ordinary daily life. The life expectancy of the affected person is also significantly limited by Friedreich’s ataxia. In most cases, patients are dependent on taking medication to alleviate the symptoms. It is important to ensure that the medication is taken regularly, and possible interactions with other medications must also be taken into account. In cases of doubt, a doctor should therefore always be consulted. Furthermore, physiotherapy measures are often necessary to treat Friedreich’s ataxia. Many of the exercises from this therapy can also be performed in the patient’s own home, thereby advancing the healing process. Since Friedreich’s ataxia can also lead to heart problems, regular examinations of the heart and other internal organs are very useful. To prevent diabetes, proper diet should also be followed. In this regard, a healthy lifestyle with a healthy diet generally has a positive effect on the further course of Friedreich’s ataxia.
What you can do yourself
In everyday life, the patient as well as his or her family members face great challenges in coping with the disease. Due to the increasing problems of physical motor skills as well as the shortened life expectancy, everyone involved needs mental strength as well as various ways to improve the existing quality of life. In order to compensate for the increasing speech disorders, the patient and his relatives should find a way in time to be able to communicate sufficiently with each other without words in everyday life. The use of sign language and also a form of sign language are aids that they can use. Writing will also present difficulties in the course of the disease, yet it would be a way of mutual exchange in addition to the use of digital aids. To support mental strengthening, therapists, forums or support groups help. An exchange of all mental stresses can take place and thus improve well-being. Common leisure activities should take place unabated. Social withdrawal is not recommended, since in most cases it has no positive effect on health. If the patient can no longer move sufficiently under his or her own steam, it is helpful if relatives or caregivers spend time with him or her 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.
