The Gerstmann-Sträussler-Scheinker syndrome (GSS) is an inherited brain disease that primarily affects the cerebellum and belongs to the group of prion diseases. Due to the progressive destruction of the cerebellum within a few years, Gerstmann-Sträussler-Scheinker syndrome (GSS) leads to motor, language and dementia disorders.
What is Gerstmann-Sträussler-Scheinker Syndrome?
Gerstmann-Sträussler-Scheinker syndrome (GSS) is one of the three most well-known prion diseases. The others are Creutzfeldt-Jakob Disease (CJD) and Fatal Familial Sleeping Sickness (FFI).
Gerstmann-Sträussler-Scheinker syndrome is a hereditary disease that occurs when only one of the parents carries the responsible gene mutation. In Gerstmann-Sträussler-Scheinker syndrome, deposits of the defective protein in the brain usually lead to visible symptoms and the onset of dementia from the age of 40.
The main affected area is the cerebellum, from which motor functions are controlled. A cure is not possible at the current state of medicine. People affected by Gerstmann-Sträussler-Scheinker syndrome die after one to ten years, depending on the individual course of the disease.
Causes
The Gerstmann-Sträussler-Scheinker syndrome is a prion disease. It is therefore based on the same mechanism of action as the well-known Creutzfeldt-Jakob disease. Due to a genetic defect, an otherwise harmless protein is produced incorrectly in GSS.
The name for these faulty proteins is prions. The prion produced in Gerstmann-Sträussler-Scheinker syndrome is deposited in the brain. Plaques form. In the course of the disease, these lead to the fact that the brain substance becomes holey like a sponge.
Diseases such as Gerstmann-Sträussler-Scheinker syndrome are therefore also referred to as spongiform encephalopathies. In Gerstmann-Sträussler-Scheinker syndrome, a large part of the deposits in the cerebellum are found in the area of the cerebellum and cause ataxia and other motor disorders as a movement disorder.
Symptoms, ailments & signs
In Gerstmann-Sträussler-Scheinker syndrome, the first symptoms appear after the age of 40. It is a so-called prion disease that progresses inexorably and always ends fatally. First of all, unsteady gait with swaying, coordination problems and frequent falls occur. At the same time, there are tremors in the eyes, speech disorders and difficulty swallowing.
A serious personality change takes place, which is characterized by increasing irritability, muscle twitching and a decrease in mental performance (progressive dementia). Other symptoms are also possible. In addition to the main symptoms, sleep disorders, paralysis, epileptic seizures, tremors, delusions, hallucinations or memory disorders can occur.
The ability to read, write or speak is also increasingly restricted over time. The arms, legs and head are mostly affected by the tremor. Overall, the symptoms of Gerstmann-Sträussler-Scheinker syndrome are similar to the symptoms of other prion diseases such as BSE or Creutzfeld-Jakob disease.
Like all prion diseases, the Gerstmann-Sträussler-Scheinker syndrome cannot be cured. There is also no effective symptomatic therapy that can at least alleviate the increasingly severe symptoms. The therapy focuses on caring for patients in need of care.
The length of the service life cannot be influenced either. After diagnosing the disease, patients live an average of about 7.5 years. However, there are also rapid courses of disease with two years and slow courses with up to 17 years of further life expectancy.
Diagnosis & course
The diagnosis of Gerstmann-Sträussler-Scheinker syndrome is not without problems for the first treating physician. Many symptoms are also present with other diseases. With a detailed anamnesis and a focus on the family history, a suspected diagnosis is first made based on the symptoms.
In order to confirm this, imaging tests are carried out on the brain for plaques that are already visible, an EEG and an examination of the cerebral water. Since there is always a risk of confusion with other prion diseases, only a genetic test can provide final certainty.
The course of the Gerstmann-Sträussler-Scheinker syndrome cannot be foreseen in detail. The neurological deficits can intensify within a few months. However, in some patients it takes years for GSS to reach the terminal stage.
Ultimately, the patients can no longer move. Serious swallowing difficulties arise and the dementia reduces intellectual awareness to a minimum. Ultimately, the patient dies from the Gerstmann-Sträussler-Scheinker syndrome.
Complications
Gerstmann-Sträussler-Scheinker syndrome is one of the hereditary diseases. The cause of the genetic defect is an incorrectly produced protein. This results in progressive destruction of the cerebellum within a few years. The first signs such as insomnia, eye tremors, swallowing difficulties, motor and coordination problems and personality disorders appear in adulthood between the ages of 35 and 50.
If the complaints are ignored, the complications increase, which have a massive impact on the life of the patient and that of those close to him. The walk of those affected becomes unsafe and falls and accidents increase, which cause further problems. The changes in personality make the patient appear unusually irritated. The body reacts with muscle twitching in the arms, legs and head as well as paralysis of the extremities.
Complete dementia, which is similar to Creutzfeldt-Jakob disease, sets in within a few months or years. The person concerned loses reading and writing. In addition, there is a loss of language skills. Epileptic fits and hallucinations develop. The syndrome leads to death in a few months, but sometimes only after ten years.
The Gerstmann-Sträussler-Scheinker syndrome can be clearly defined by differential diagnosis with anamnesis of the family history as well as imaging procedures; it is not curable. Medical therapy can only temporarily alleviate the syndrome. The patient becomes a case of the most severe nursing care until he dies.
When should you go to the doctor?
A doctor should be consulted as soon as there are speech disorders or uncertainties in sound formation. If there are difficulties in understanding speech, a doctor’s visit is necessary. Difficulty swallowing or dry mouth should also be clarified by a doctor if they persist for a long time despite adequate fluid intake. If there are unsteady gait or problems with natural locomotion, the person concerned needs help.
If there is an increase in the general risk of accidents, more falls or problems with coordination, a doctor must be consulted. Trembling extremities or a trembling head as well as restlessness should be examined and treated by a doctor. Although the disease mostly affects people over the age of 40, a doctor should also be seen if the irregularities show up in a younger person. Difficulties in reading or writing must always be examined and clarified. If memory lapses occur or learned skills slip away, a doctor’s visit is necessary.
If the person concerned shows symptoms similar to dementia, a doctor should be consulted as soon as possible. Personality disorders, behavioral abnormalities, and increased irritability should be followed up medically. Since the Gerstmann-Sträussler-Scheinker syndrome is associated with a reduced life expectancy, it is advisable to consult a doctor in good time.
Treatment & Therapy
Treatment of the Gerstmann-Sträussler-Scheinker syndrome does not improve or even cure the disease. The task of the attending physician and the nursing staff can only be to alleviate the effects of the progressive symptoms of Gerstmann-Sträussler-Scheinker syndrome and to keep the quality of life at the highest possible level.
A number of aids are possible and necessary to facilitate coping with everyday life. This includes, in particular, maintaining mobility by providing suitable wheelchairs that the patient can move for as long as possible without assistance.
If a strong body tremor sets in and the ability to speak declines, nursing staff is unavoidable. Since difficulty swallowing is often part of the Gerstmann-Sträussler-Scheinker syndrome, it is important to ensure that breathing is kept free. Respiratory infections are a major burden in a patient with Gerstmann-Sträussler-Scheinker syndrome.
The Gerstmann-Sträussler-Scheinker syndrome makes those affected into very heavy nursing cases, which can rarely be further cared for in the home. A suitable home place is required for most of those affected by Gerstmann-Sträussler-Scheinker syndrome.
Outlook & forecast
The Gerstmann-Sträussler-Scheinker syndrome has an unfavorable prognosis. The disease is based on a genetic defect. This leads to a faulty production of a protein. Due to legal requirements, doctors and scientists are not allowed to intervene in human genetics.
Therefore, the patient is given symptomatic care. The disease progression of the syndrome is progressive and cannot be stopped with the existing medical conditions. There is therefore no cure for this disease.
The focus of treatment is to delay the progression of the disease. Targeted therapies delay the increase in symptoms whenever possible. However, it cannot be stopped. As the disease progresses, the patient increasingly suffers from physical as well as mental impairments.
Supervision is necessary because everyday life can no longer be dealt with independently. Various functional disorders set in and trigger a deterioration in quality of life and well-being. It is particularly important to control and monitor breathing activity. Otherwise the patient threatens to die prematurely through suffocation.
The Gerstmann-Sträussler-Scheinker syndrome is not only unfavorable for the patient. In addition, it places a heavy burden on the social environment. Due to the severity of the symptoms, mental illnesses can occur in the affected person as well as in relatives, which contribute to a further worsening of the overall situation.
Prevention
The Gerstmann-Sträussler-Scheinker syndrome is currently incurable and unavoidable. Prevention is not possible. If there are already people in the family who have Gerstmann-Sträussler-Scheinker syndrome, only a DNA analysis can provide certainty that this hereditary disease is also present.
The prospect of contracting Gerstmann-Sträussler-Scheinker syndrome is a great psychological burden for those affected. In this case, many people refrain from fathering their own children in order not to pass on the Gerstmann-Sträussler-Scheinker syndrome.
Aftercare
Although the Gerstmann-Sträussler-Scheinker syndrome has not yet been cured, at least in the early stages of the disease it looks a little better with the follow-up measures. The improvements in quality of life that can be achieved in this way are aimed at alleviating symptoms as far as possible.
Later on, aftercare can only consist of intensive care activities for the subsequent dementia. Despite all efforts, death is likely a few years after diagnosis. The aftercare options for the progressively progressive Gerstmann-Sträussler-Scheinker syndrome are concerned with various sequelae of this hereditary disease at the beginning of the disease.
Similar to mad cow disease (NSE) or Creutzfeldt-Jakob disease, there are irreversible changes in the prions. Often the similarity to the diseases mentioned is so great that Gerstmann-Sträussler-Scheinker syndrome is diagnosed too late.
Follow-up care for such genetic defects is therefore both complex and difficult. The symptoms of Gerstmann-Sträussler-Scheinker syndrome that appear at the beginning can at best be alleviated, but not eliminated. Since the first symptoms of this spongiform encephalopathy can appear in your mid-forties, treatment begins at this point.
In the initial phase, individual treatment options and follow-up measures are possible. The course of Gerstmann-Sträussler-Scheinker syndrome can vary. Later, however, it is only a matter of saving those affected unnecessary suffering. Premature death is usually to be expected. He ends all options for further treatment.
You can do that yourself
The Gerstmann-Sträussler-Scheinker syndrome brings some accompanying symptoms with it, which can be alleviated in everyday life through self-help.
The ataxia that occurs in the course of the syndrome can mainly be weakened by regular mobilization. Routine movement patterns reduce the risk of excessive restrictions in mobility. The Dysarthie, so possible speech disorders may Speech therapy sessions counter. The speech exercises strengthen the muscles required for speech and thus prevent them from breaking down.
The resulting dementia can be countered with memory exercises and other cognitive challenges. In this way, the mental abilities of those affected are preserved for as long as possible.
Redesigning the apartment makes sense for patients who walk unsteadily and tend to fall. Additional handles and covering dangerous edges or protrusions are pragmatic considerations. Also walking aids can be useful for those affected.
With regard to the frequently occurring swallowing disorders, a change in diet or the consistency of the food is advisable. In principle, those affected by the syndrome can eat anything. However, pureeing beforehand makes food intake more pleasant.
A cure for this disease is almost impossible. For this reason, the focus must mainly be on alleviating the symptoms and on making everyday life as pleasant as possible for those affected.
