Rare Disease

GSS Prion Disease: Understanding Gerstmann-Sträussler-Scheinker Syndrome

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What is Gerstmann-Sträussler-Scheinker Syndrome (GSS)? 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 cellular protein, PrPC, into an abnormal, infectious isoform, PrPSc. This misfolded protein accumulates in the brain, leading to … Read more

Charcot-Marie-Tooth Disease (CMT): Understanding Symptoms, Diagnosis, and Management

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Charcot-Marie-Tooth Disease (CMT): Understanding Symptoms, Diagnosis, and Management Charcot-Marie-Tooth disease (CMT), also known as hereditary motor and sensory neuropathy (HMSN), is a group of inherited disorders affecting the peripheral nerves. These nerves transmit signals between the brain and spinal cord to the rest of the body, controlling muscle movement and sensation. CMT leads to progressive … Read more

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