Gerstmann-Sträussler-Scheinker syndrome
ICD-10 A81.82 is a billable code used to indicate a diagnosis of gerstmann-sträussler-scheinker syndrome.
Gerstmann-Sträussler-Scheinker syndrome (GSS) is a rare, inherited neurodegenerative disorder that is part of a group of diseases known as prion diseases. It is characterized by progressive ataxia, cognitive decline, and the development of spongiform changes in the brain. GSS is caused by mutations in the prion protein gene (PRNP) and is typically inherited in an autosomal dominant manner. Patients may present with symptoms such as difficulty with coordination and balance, memory loss, and behavioral changes. Neurological complications can include seizures, dysarthria, and visual disturbances. The disease progresses over several years, ultimately leading to severe disability and death. GSS is distinct from other prion diseases like Creutzfeldt-Jakob disease (CJD) and fatal familial insomnia, although they share similar pathophysiological mechanisms involving misfolded prion proteins. Vaccination status is not directly related to GSS, as it is not a viral infection but rather a genetic disorder. However, understanding the patient's overall health and vaccination history may be relevant in managing co-morbid conditions.
Comprehensive neurological examination, genetic testing results, and family history documentation.
Patients presenting with progressive ataxia, cognitive decline, or seizures.
Ensure clear differentiation from other prion diseases and viral infections.
Detailed family history and genetic testing results.
Assessment of patients with a family history of prion diseases.
Documentation of genetic counseling and testing outcomes is crucial.
Used when genetic testing is performed to confirm GSS.
Document the rationale for testing and results.
Neurology and genetics specialists should collaborate on documentation.
GSS is primarily caused by mutations in the prion protein gene (PRNP), leading to the accumulation of misfolded proteins in the brain.
Diagnosis is made through clinical evaluation, family history assessment, and genetic testing for PRNP mutations.
