Rare Disease

GSS Disease: Understanding, Diagnosing, and Managing Gerstmann-Sträussler-Scheinker Syndrome

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GSS Disease: Understanding, Diagnosing, and Managing Gerstmann-Sträussler-Scheinker Syndrome Gerstmann-Sträussler-Scheinker syndrome (GSS) is a rare, inherited prion disease that affects the central nervous system. Characterized by progressive neurological deterioration, GSS shares similarities with other prion diseases like Creutzfeldt-Jakob disease (CJD) and fatal familial insomnia (FFI), but it boasts unique clinical features and a distinct genetic basis. … Read more

Fumarase Deficiency: Understanding This Rare Metabolic Disorder

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Fumarase Deficiency: Understanding This Rare Metabolic Disorder Fumarase deficiency is a rare, inherited metabolic disorder affecting the body’s ability to process certain molecules. This condition, also known as fumarase deficiency disorder, results from mutations in the FH gene, which provides instructions for creating the fumarase enzyme. This enzyme plays a crucial role in the citric … Read more

What is GSS Disease? Understanding Gerstmann-Sträussler-Scheinker Syndrome

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What is GSS Disease? Understanding Gerstmann-Sträussler-Scheinker Syndrome What is GSS Disease? Understanding Gerstmann-Sträussler-Scheinker Syndrome Gerstmann-Sträussler-Scheinker syndrome (GSS) is a rare, inherited, and invariably fatal neurodegenerative disorder. It belongs to a group of diseases known as prion diseases, which are characterized by the misfolding of a normal brain protein, known as prion protein (PrP), leading to … Read more

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