Tag: seizures

  • Spielmeyer-Vogt Disease

    Spielmeyer-Vogt Disease: Definition and Description of Spielmeyer-Vogt Disease: Spielmeyer-Vogt Disease, also known as neuronal ceroid lipofuscinosis type 1 (NCL1), is a rare inherited neurodegenerative disorder. It primarily affects children and is characterized by the progressive loss of vision, intellectual decline, and other neurological symptoms. The disease falls under the family of lysosomal storage diseases, where…

  • Refractory Epilepsy

    Refractory Epilepsy: Definition and Description of Refractory Epilepsy: Refractory epilepsy, also known as drug-resistant epilepsy, is a condition where seizures remain uncontrolled despite adequate treatment with at least two antiepileptic medications. This form of epilepsy is particularly challenging as it significantly impacts the quality of life of affected individuals. The term ‘refractory’ refers to the…

  • Infantile Myoclonic Encephalopathy

    Infantile Myoclonic Encephalopathy Definition and Description of Infantile Myoclonic Encephalopathy Infantile Myoclonic Encephalopathy (IME) is a rare and serious neurological disorder that primarily affects infants and young children. It is characterized by recurring myoclonic jerks, which are sudden, involuntary muscle spasms. These jerks can involve the arms, legs, and face, leading to significant developmental delays…

  • Hydrocephalus, Congenital

    Hydrocephalus, Congenital Definition and Description of Hydrocephalus, Congenital Hydrocephalus, Congenital is a neurological condition characterized by the accumulation of cerebrospinal fluid (CSF) within the cavities of the brain, known as ventricles. This condition occurs at birth or develops soon after due to malformations in the brain’s structure, leading to an imbalance between the production and…

  • Homocystinuria

    Homocystinuria Definition and Description of Homocystinuria Homocystinuria is a rare genetic disorder that results in an abnormal buildup of homocysteine in the blood. It is classified as an inherited metabolic disorder where the body is unable to properly process certain amino acids, particularly methionine, leading to elevated levels of homocysteine. This condition can result in…

  • Gangliosidosis GM2 Type 2

    Gangliosidosis GM2 Type 2 Definition and Description of Gangliosidosis GM2 Type 2 Gangliosidosis GM2 Type 2, also known as Tay-Sachs disease, is a genetic disorder that affects the body’s ability to break down certain fats known as gangliosides. This condition is caused by a deficiency in the enzyme Hexosaminidase A (Hex-A), which is essential for…

  • Fibrinoid Leukodystrophy

    Fibrinoid Leukodystrophy Definition and Description of Fibrinoid Leukodystrophy Fibrinoid Leukodystrophy is a rare neurological disorder characterized by the degeneration of white matter in the brain. This condition is associated with the accumulation of fibrinoid material that disrupts normal brain function. It primarily affects the myelin sheath, which is essential for the proper conduction of electrical…

  • Fahr Disease

    Fahr Disease Definition and Description of Fahr Disease Fahr Disease, also known as Fahr’s Syndrome, is a rare neurological disorder characterized by the abnormal accumulation of calcium in areas of the brain known as the basal ganglia. This condition can lead to various neurological and psychiatric symptoms. The exact mechanism of calcium deposition is not…

  • Epilepsy

    Epilepsy Definition and Description of Epilepsy Epilepsy is a neurological disorder characterized by recurrent, unprovoked seizures, caused by abnormal electrical activity in the brain. According to the International League Against Epilepsy (ILAE), a seizure is defined as a temporary disturbance in the electrical activity in the brain, which can lead to changes in behavior, sensations,…

  • Epilepsy and Seizures

    Epilepsy and Seizures Definition and Description of Epilepsy and Seizures Epilepsy is a chronic neurological disorder characterized by recurrent, unprovoked seizures. Seizures occur due to sudden, abnormal electrical activity in the brain, leading to a wide range of symptoms that may vary in intensity and duration. According to the World Health Organization, epilepsy affects around…