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) results in motor and speech disorders and dementia.
What is Gerstmann-Sträussler-Scheinker syndrome?
Gerstmann-Sträussler-Scheinker syndrome (GSS) is one of the three best-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, visible symptoms and the onset of dementia usually occur after the age of 40 due to the deposition of the defective protein in the brain. The cerebellum, from which motor functions are controlled, is mainly affected. A cure is not possible at the present 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
Gerstmann-Sträussler-Scheinker syndrome is a prion disease. Thus, it is based on the same mechanism of action as the well-known Creutzfeldt-Jakob disease. Due to a genetic defect, a protein that is otherwise harmless to the body is defectively produced in GSS. The name for these defective proteins is prions. The prion produced in Gerstmann-Sträussler-Scheinker syndrome is deposited in the brain. Plaques are formed. As the disease progresses, these cause the brain substance to become as full of holes as a sponge. Diseases such as Gerstmann-Sträussler-Scheinker syndrome are therefore also referred to as spongiform encephalopathies. In particular, in Gerstmann-Sträussler-Scheinker syndrome, most of the deposits are found in the cerebellum and cause ataxia and other motor disorders as a movement disorder.
Symptoms, complaints, and 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 is always fatal. Initially, gait unsteadiness with swaying, coordination problems and frequent falls occur. At the same time, there are eye tremors, speech disorders and difficulty swallowing. A serious personality change takes place, characterized by increasing irritability, muscle twitching and decrease in mental capacity (progressive dementia). In addition, other symptoms are also possible. Thus, in addition to the main symptoms, there may be sleep disturbances, paralysis, epileptic seizures, tremor, delusions, hallucinations or memory impairment. The ability to read, write or speak also becomes more and more limited over time. Tremor (shaking) usually affects the arms, legs and head. Overall, the symptoms of Gerstmann-Sträussler-Scheinker syndrome are similar to those of other prion diseases such as BSE or Creutzfeld-Jakob disease. Gerstmann-Sträussler-Scheinker syndrome, like all prion diseases, is not curable. There is also no effective symptomatic therapy that could at least mitigate the increasingly severe symptoms. Therapy is focused on the care of the patients in need of care. There is also no way to influence the length of life. After diagnosis of the disease, patients live on average for about 7.5 years. However, there are also rapid courses of the disease with two years and slow courses with up to 17 years of further life expectancy.
Diagnosis and course
Diagnosis is not unproblematic for the first treating physician in Gerstmann-Sträussler-Scheinker syndrome. Many symptoms are also present in other disorders. With a thorough history and a focus on family history, a tentative diagnosis is initially made based on the symptoms. To confirm this, imaging examinations of the brain for already visible plaques, EEG and cerebrospinal fluid examination are performed. Since there is always a risk of confusion with other prion diseases, only a genetic test can provide final certainty.The course of Gerstmann-Sträussler-Scheinker syndrome is not predictable in detail. The neurological deficits can intensify within a few months. In contrast, in some patients it takes years for GSS to reach the final stage. Eventually, patients can no longer move. Serious swallowing difficulties occur and the dementia reduces intellectual perception to a minimum. In the last consequence, death of the patient occurs due to Gerstmann-Sträussler-Scheinker syndrome.
Complications
Gerstmann-Sträussler-Scheinker syndrome is one of the hereditary diseases. The cause of the genetic defect is a defectively produced protein. This causes progressive destruction of the cerebellum within a few years. The first signs, such as sleep disturbances, eye tremors, difficulty swallowing, problems with motor skills and coordination, and personality disorders, appear in adulthood between the ages of 35 and 50. If the symptoms are ignored, complications accumulate, massively affecting the life and close environment of the patient. The gait of the affected person becomes unsteady and falls and accidents accumulate, causing further problems. Due to the changes in character, the patient appears unusually irritable. The body reacts with muscle twitches in the arms, legs and head as well as paralysis of the extremities. Within a few months or years, complete dementia sets in, which is similar to Creutzfeldt-Jakob disease. The affected person loses the ability to read and write. In addition, there is a loss of the ability to speak. Epileptic seizures and hallucinations develop. The syndrome leads to death in a few months, but sometimes after ten years. Gerstmann-Sträussler-Scheinker syndrome can be clearly defined by differential diagnosis with history of family history as well as imaging techniques; it is not curable. Medical therapy can only alleviate the syndrome for a short time. The patient becomes a severe care case until his or her demise.
When should you see a doctor?
A physician should be consulted as soon as speech disorders or uncertainty in phonation occur. If difficulties in understanding speech develop, a visit to the doctor is necessary. Swallowing difficulties or dry mouth should also be clarified by a doctor if they persist over a longer period of time despite sufficient fluid intake. If gait unsteadiness or problems with natural locomotion occur, the affected person needs help. If there is an increase in the general risk of accidents, increased falls, or problems with coordination, a physician must be consulted. Trembling extremities or a shaking head, as well as internal agitation, should be evaluated and treated by a physician. Although the condition most often occurs in people over the age of 40, a doctor should also be consulted if the irregularities are evident in a younger person. Difficulty reading or writing should always be investigated and clarified. If memory lapses occur or learned skills slip away, a visit to the doctor is necessary. If the affected person shows dementia-like symptoms, a doctor should be consulted as soon as possible. Personality disorders, abnormal behavior and increased irritability should be medically investigated. Since Gerstmann-Sträussler-Scheinker syndrome is associated with a reduced life expectancy, it is recommended that a physician be consulted in a timely manner.
Treatment and therapy
Treatment of Gerstmann-Sträussler-Scheinker syndrome does not lead to improvement or even cure of the disease. The role of the treating physician and caregivers can only be to mitigate the effects of the progressive symptoms of Gerstmann-Sträussler-Scheinker syndrome and to maintain the quality of life at the highest possible level. A number of aids are possible and also necessary to facilitate coping with everyday life. These include, in particular, maintaining mobility by providing suitable wheelchairs that the patient can move for as long as possible without assistance. If severe body tremor sets in and the ability to speak diminishes, nursing staff are indispensable. Since swallowing difficulties are often part of the clinical picture of Gerstmann-Sträussler-Scheinker syndrome, care must be taken to keep breathing clear. Infections of the respiratory tract are a great burden for a patient with Gerstmann-Sträussler-Scheinker syndrome.The Gerstmann-Sträussler-Scheinker syndrome turns the affected persons into severe care cases who can rarely be cared for further in the home. A suitable nursing home placement is required for most sufferers of Gerstmann-Sträussler-Scheinker syndrome.
Outlook and prognosis
Gerstmann-Sträussler-Scheinker syndrome has an unfavorable prognosis. The disease is based on a genetic defect. This leads to defective production of a protein. Due to legal regulations, physicians and scientists are not allowed to interfere with the genetics of humans. Therefore, symptomatic care of the patient takes place. The progress of the syndrome is progressive and cannot be stopped with the existing medical conditions. Therefore, a cure does not take place with this disease. The focus of treatment is to delay the progression of the disease. Targeted therapies are used to delay the increase in symptoms as far as possible. However, it cannot be stopped. As the disease progresses, the patient suffers increasingly from physical as well as mental impairments. Care is necessary because the patient is no longer able to cope with everyday life independently. Various functional disorders set in and trigger a deterioration in quality of life as well as well-being. It is particularly important to control and monitor respiratory activity. Otherwise, the patient is threatened with premature death by suffocation. Gerstmann-Sträussler-Scheinker syndrome is not only unfavorable for the patient. It also places a heavy burden on the social environment. Due to the severity of the symptoms, mental illness may occur in the affected person as well as in relatives, contributing to a further deterioration of the overall situation.
Prevention
Gerstmann-Sträussler-Scheinker syndrome is currently incurable and not preventable. Prevention is not possible. If people in the family already have Gerstmann-Sträussler-Scheinker syndrome, only DNA analysis can provide certainty that this hereditary disease is also present. The prospect of also contracting Gerstmann-Sträussler-Scheinker syndrome is a great psychological burden for an affected person. In this case, many refrain from fathering their own children in order not to pass on Gerstmann-Sträussler-Scheinker syndrome.
Aftercare
Although a cure for Gerstmann-Sträussler-Scheinker syndrome has not yet been achieved, at least in the early stages of the disease things are looking somewhat better with aftercare measures. The improvements in quality of life that can be achieved 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 in progressively progressive Gerstmann-Sträussler-Scheinker syndrome are concerned with multiple sequelae of this hereditary disease at the onset. Similar to mad cow disease (NSE) or Creutzfeldt-Jakob disease, irreversible changes in the prions are present. Often the similarity to the diseases mentioned is so great that Gerstmann-Sträussler-Scheinker syndrome is diagnosed too late. The follow-up for such genetic defects is therefore both complex and difficult. The initial symptoms of Gerstmann-Sträussler-Scheinker syndrome can at best be mitigated, but not reversed. Since the first symptoms of this spongiform encephalopathy can appear as early as the mid-forties, treatment begins as early as then. In the early stages, individualized treatment options and follow-up care are available. The course of Gerstmann-Sträussler-Scheinker syndrome can vary. Later, however, the only concern is to spare the affected person unnecessary suffering. An early death is usually to be expected. It ends all options for further treatment.
This is what you can do yourself
Gerstmann-Sträussler-Scheinker syndrome brings with it some accompanying symptoms that can be alleviated in everyday life by self-help. The ataxia that occurs as part of the syndrome can be mitigated primarily by regular mobilization. Routine movement patterns reduce the risk of excessive limitations in mobility. Dysarthia, i.e. possible speech disorders, can be counteracted by logopedic exercises.The speech exercises strengthen the muscles needed for speech and thus prevent them from deteriorating. 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. For patients who walk unsteadily and are prone to falls, it makes sense to redesign the home. Additional grab bars and covering dangerous edges or ledges are pragmatic considerations. Walking aids may also be of benefit to those affected. With regard to the frequently occurring swallowing disorders, a change in diet, or rather the consistency of the food, is a good idea. In principle, those affected by the syndrome can eat anything. However, prior pureeing makes the intake of food more pleasant. A cure for this condition is virtually impossible. For this reason, the focus must be mainly on alleviating the symptoms and making everyday life as pleasant as possible for those affected.