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Diseases

Genetic and Rare Diseases Information Center (GARD)

Gerstmann-Straussler-Scheinker disease


Other Names for this Disease
  • Amyloidosis cerebral with spongiform encephalopathy
  • Cerebellar ataxia, progressive dementia, and amyloid deposits in the central nervous system
  • Encephalopathy subacute spongiform Gerstmann-Straussler type
  • Gerstmann Straussler Scheinker syndrome
  • Gerstmann-Straussler-Scheinker syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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What are the signs and symptoms of Gerstmann-Straussler-Scheinker disease?

Signs and symptoms of Gerstmann-Straussler-Scheinker disease generally develop between ages 35 and 50 years. Affected people may experience:[1][2][3]
  • Progressive ataxia, including clumsiness, unsteadiness, and difficulty walking
  • Cognitive disfunction leading to bradyphrenia (slowness of thought processing) and dementia
  • Dysarthria (slurred speech)
  • Nystagmus
  • Spasticity (rigid muscle tone)
  • Visual disturbances, sometimes leading to blindness
  • Lack of coordination in swallowing
  • Deafness
  • Parkinsonian features (present in some families)
Last updated: 8/19/2015

The Human Phenotype Ontology provides the following list of signs and symptoms for Gerstmann-Straussler-Scheinker disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Adult onset -
Aggressive behavior -
Apraxia -
Areflexia -
Autosomal dominant inheritance -
Bradykinesia -
Cerebellar atrophy -
Dementia -
Depression -
Dysarthria -
Emotional lability -
Gait ataxia -
Hyperreflexia -
Impaired smooth pursuit -
Limb ataxia -
Lower limb muscle weakness -
Memory impairment -
Myoclonus -
Neurofibrillary tangles -
Parkinsonism -
Perseveration -
Personality changes -
Phenotypic variability -
Psychosis -
Rapidly progressive -
Rigidity -
Spasticity -
Tremor -
Truncal ataxia -
Weight loss -

Last updated: 8/1/2015

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. James A Mastrianni. Genetic Prion Diseases. GeneReviews. January 2, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1229/.
  2. Henry G Brown, MD, PhD; John M Lee, MD, PhD. Diseases of the central nervous system caused by prions. UpToDate. October 2014; Accessed 8/19/2015.
  3. NINDS Gerstmann-Straussler-Scheinker Disease Information Page. National Institute of Neurological Disorders and Stroke (NINDS). February 13, 2007; http://www.ninds.nih.gov/disorders/gss/gss.htm.


Other Names for this Disease
  • Amyloidosis cerebral with spongiform encephalopathy
  • Cerebellar ataxia, progressive dementia, and amyloid deposits in the central nervous system
  • Encephalopathy subacute spongiform Gerstmann-Straussler type
  • Gerstmann Straussler Scheinker syndrome
  • Gerstmann-Straussler-Scheinker syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.