Tag: neurological symptoms

  • Skull Base Chordoma

    Skull Base Chordoma: Definition and Description of Skull Base Chordoma: Skull base chordoma is a rare type of bone cancer that occurs at the base of the skull and the spine. These tumors arise from remnants of the notochord, a structure that is present during embryonic development. As chordomas are slow-growing tumors, they may not…

  • Rabies

    Rabies: Definition and Description of Rabies: Rabies is a viral infection caused by the rabies virus, which belongs to the Lyssavirus genus. This disease primarily affects mammals, including humans, and is most commonly transmitted through the bite of infected animals, particularly dogs, bats, and raccoons. Once the virus enters the body, it travels through the…

  • Phakomatosis TS

    Phakomatosis TS: Definition and Description of Phakomatosis TS: Phakomatosis TS, also known as Tuberous Sclerosis, is a rare genetic disorder characterized by the growth of benign tumors in various organs. These tumors can affect the brain, kidneys, heart, lungs, and skin. Tuberous sclerosis complex (TSC) is caused by mutations in either the TSC1 or TSC2…

  • Opthalmoneuromyelitis

    Opthalmoneuromyelitis: Definition and Description of Opthalmoneuromyelitis: Opthalmoneuromyelitis, often classified as a central nervous system inflammatory disorder, is characterized by the simultaneous inflammation of the optic nerves, spinal cord, and brain. This condition is closely related to multiple sclerosis and neuromyelitis optica, with a specific focus on eye and spinal cord involvement. It primarily presents as…

  • Mixed Hepatic Porphyria

    Mixed Hepatic Porphyria: Definition and Description of Mixed Hepatic Porphyria: Mixed Hepatic Porphyria is a rare genetic disorder that affects the body’s ability to produce heme, an essential component of hemoglobin in red blood cells. This condition results from mutations that disrupt the enzymatic processes involved in heme synthesis, particularly affecting the liver. Individuals with…

  • Lysosomal Storage Disorders

    Lysosomal Storage Disorders Definition and Description of Lysosomal Storage Disorders Lysosomal Storage Disorders (LSDs) are a group of inherited metabolic conditions that result in the malfunction of lysosomes, which are cellular organelles responsible for breaking down waste materials and cellular debris. When lysosomes do not function properly, harmful substances can accumulate in cells, leading to…

  • Labyrinthine Positional Nystagmus

    Labyrinthine Positional Nystagmus Definition and Description of Labyrinthine Positional Nystagmus Labyrinthine Positional Nystagmus is a type of involuntary eye movement that is specifically associated with changes in head position. This condition is often characterized by an abnormal response of the vestibular system, which coordinates balance and eye movements. In medical terminology, “nystagmus” refers to a…

  • Jakob-Creutzfeldt Disease

    Jakob-Creutzfeldt Disease Definition and Description of Jakob-Creutzfeldt Disease Jakob-Creutzfeldt Disease (JCD), also known as Creutzfeldt-Jakob Disease (CJD), is a rare and degenerative brain disorder classified as a prion disease. It causes rapid neurodegeneration in humans, leading to severe cognitive impairment and physical disability. This condition is characterized by the accumulation of misfolded proteins, known as…

  • Immunodeficiency with Ataxia Telangiectasia

    Immunodeficiency with Ataxia Telangiectasia Definition and Description of Immunodeficiency with Ataxia Telangiectasia Immunodeficiency with Ataxia Telangiectasia (A-T) is a rare genetic condition that primarily affects the immune system and is characterized by progressive neurological decline. A-T results from mutations in the ATM gene, which is crucial for DNA repair and cellular response to stress. This…

  • Glioma-Polyposis Syndrome

    Glioma-Polyposis Syndrome Definition and Description of Glioma-Polyposis Syndrome Glioma-Polyposis Syndrome is a rare genetic disorder characterized by the development of polyps in the gastrointestinal tract and gliomas in the brain. This syndrome is often linked to hereditary conditions, particularly familial adenomatous polyposis (FAP), which leads to an increased risk of colorectal cancer. The presence of…