What is Charcot-Marie-Tooth Disease (CMT)? 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 are responsible for transmitting signals between the brain and spinal cord to the muscles and sensory organs in the limbs. In CMT, the myelin sheath –…
Understanding Charcot-Marie-Tooth Disease (CMT) Charcot-Marie-Tooth disease (CMT), also known as hereditary motor and sensory neuropathy (HMSN), is a group of inherited disorders that affect the peripheral nerves. These nerves transmit signals between the brain and spinal cord to the rest of the body, controlling movement, sensation, and reflexes. CMT causes progressive damage to these nerves,…
What is Gerstmann-Sträussler-Scheinker Syndrome (GSS)? Gerstmann-Sträussler-Scheinker syndrome (GSS) is a rare, inherited, and invariably fatal neurodegenerative disorder. It’s classified as a prion disease, a group of conditions caused by misfolded proteins that accumulate in the brain, leading to progressive neurological damage. Unlike some prion diseases like Creutzfeldt-Jakob disease (CJD), GSS typically has a later onset…
Diamond-Blackfan Anemia: A Comprehensive Overview Diamond-Blackfan anemia (DBA) is a rare and inherited bone marrow failure disorder predominantly affecting children. Characterized by insufficient production of red blood cells (anemia), DBA often presents in infancy or early childhood, significantly impacting a child’s growth and development. This comprehensive guide delves into the intricacies of DBA, covering its…
