Gerstmann-Sträussler-Scheinker disease is a prion disease that causes muscle incoordination followed by slow deterioration of mental function. The disease is fatal, usually in about 5 years.

Like Creutzfeldt-Jakob disease, Gerstmann-Sträussler-Scheinker disease may occur anywhere in the world. However, it is much less common than Creutzfeldt-Jakob disease, begins earlier in life (affecting people in their 40s rather than in their late 50s and 60s), and progresses more slowly (with an average life expectancy of 5 years rather than 6 months). This disease runs in families.

Usually, the first symptoms are clumsiness and unsteadiness when walking. Muscle twitching is much less common than in Creutzfeldt-Jakob disease. Speaking becomes difficult, and dementia develops. Nystagmus (rapid movement of the eyes in one direction, followed by a slower drift back to the original position), blindness, and deafness may develop. Muscle coordination is lost. The muscles may tremble and become stiff. Usually, the muscles that control breathing and coughing are impaired, resulting in a high risk of pneumonia, which is the common cause of death.

The diagnosis is suggested by typical symptoms and a family history of the disease and can be confirmed by genetic testing. No treatment is available.

Last full review/revision January 2007 by Pierluigi Gambetti, MD