Gerstmann-Straussler-Scheinker disease is a rare, inherited neurodegenerative disease caused by prions that attack the brain and central nervous system, leading to ataxia, blindness, dementia, and death. There is no cure, but gene therapy may hold promise in the future. Diagnosis is difficult and treatment is focused on keeping the patient comfortable.
Gerstmann-Straussler-Scheinker disease is an extremely rare inherited neurodegenerative disease that is currently not curable. It is part of a family of diseases known as transmissible spongiform encephalopathies (TSEs), which appear to be caused by rogue proteins known as prions. These prions attack the brain and central nervous system, causing an assortment of symptoms that always ultimately lead to death.
The incidence of this disease is quite low worldwide and your chances of contracting the disease are extremely small. Only a few families have a documented history of Gerstmann-Straussler-Scheinker and it does not always emerge in related people. Because the incidence of the disease is rare, scientists have not invested much in trying to find a cure, although one day a cure could be achieved through gene therapy that addresses the genetic component of the disease, stopping it before it even starts. Such therapy could also be used to treat victims of other TSEs.
Gerstmann-Straussler-Scheinker symptoms generally begin when the patient is between the ages of 35 and 55, and onset is typically slow. Progression can take anywhere from two to 20 years; in some cases, patients can live relatively normal lives for some time, while in other cases the progress of the disease is rapid, barely giving the patient time to put their affairs in order. The first signs typically take the form of clumsiness and difficulty balancing or performing fine motor tasks, a combination of symptoms that is collectively known as ataxia.
In addition to ataxia, some patients also have eye problems that can lead to blindness, along with slurred speech and muscle spasms. Eventually, the disease progresses to full-blown dementia and the patient typically falls into a coma. The most common cause of death for a patient with Gerstmann-Straussler-Scheinker is a secondary infection caused by the body’s inability to cope with infection, with some families choosing to remove comatose patients from life support, as they do not there is no expectation of recovery.
Like other TSEs, Gerstmann-Straussler-Scheinker can be difficult to identify while the patient is alive, as an autopsy and examination of brain tissue are required to confirm the diagnosis. Patients are typically diagnosed with Gerstmann-Straussler-Scheinker when they have a family history of the disease and exhibit the required symptoms without recovering from treatments that could address other causes of these symptoms. Treatment for Gerstmann-Straussler-Scheinker is primarily aimed at keeping the patient comfortable, as there is no cure.
Protect your devices with Threat Protection by NordVPN
