(See also Overview of Prion Diseases Overview of Prion Diseases Prion diseases are rare progressive, fatal, and currently untreatable degenerative disorders of the brain (and rarely of other organs) that result when a protein changes into an abnormal form... read more .)
Like Creutzfeldt-Jakob disease Creutzfeldt-Jakob Disease (CJD) Creutzfeldt-Jakob disease is a prion disease characterized by progressive deterioration of mental function, leading to dementia, involuntary jerking of muscles (myoclonus), and staggering when... read more , Gerstmann-Sträussler-Scheinker disease is a prion disease that may occur anywhere in the world. However, it is much less common than Creutzfeldt-Jakob disease. It usually begins earlier in life (affecting people in their 40s rather than in their 60s) and progresses more slowly (with an average life expectancy of 5 years rather than 6 months). Gerstmann-Sträussler-Scheinker disease is a familial prion disease Familial prion diseases Prion diseases are rare progressive, fatal, and currently untreatable degenerative disorders of the brain (and rarely of other organs) that result when a protein changes into an abnormal form... read more . That is, it runs in families.
Usually, the first symptoms are clumsiness and unsteadiness when walking. Muscle jerking ( myoclonus Myoclonus Myoclonus refers to quick, lightning-like jerks (contractions) of a muscle or a group of muscles. Myoclonus may occur normally (for example, jerking of a leg when a person is falling asleep)... read more ) is much less common than in Creutzfeldt-Jakob disease. Speaking becomes difficult (called dysarthria), and dementia develops. Nystagmus (rapid movement of the eyes in one direction, followed by a slower drift back to the original position) and deafness may develop. Muscle coordination is lost (called ataxia Coordination Disorders ). The muscles may become stiff. Usually, the muscles that control breathing and coughing are impaired, resulting in a high risk of pneumonia Overview of Pneumonia Pneumonia is an infection of the small air sacs of the lungs (alveoli) and the tissues around them. Pneumonia is one of the most common causes of death worldwide. Often, pneumonia is the final... read more , which is the most common cause of death.
The diagnosis of Gerstmann-Sträussler-Scheinker disease is suggested by typical symptoms and a family history of the disease and is confirmed by genetic testing.
No effective treatment is available. Treatment of Gerstmann-Sträussler-Scheinker disease focuses on relieving symptoms.