Tag: rare diseases

  • Sphingolipidosis, Krabbe’s Type

    Sphingolipidosis, Krabbe’s Type: Definition and Description of Sphingolipidosis, Krabbe’s Type: Sphingolipidosis, Krabbe’s Type, commonly referred to as Krabbe disease, is a rare and inherited neurological disorder that primarily affects the nervous system. It is classified as a lysosomal storage disease, caused by a deficiency of the enzyme galactocerebrosidase (GALC). This deficiency leads to the accumulation…

  • Sphingomyelinase Deficiency

    Sphingomyelinase Deficiency: Definition and Description of Sphingomyelinase Deficiency: Sphingomyelinase Deficiency, also known as Niemann-Pick Disease type A and B, is a rare genetic disorder characterized by a deficiency of the enzyme sphingomyelinase. This enzyme plays a critical role in lipid metabolism, particularly in breaking down sphingomyelin, a type of lipid found in cell membranes. When…

  • Spielmeyer-Vogt-Batten Syndrome

    Spielmeyer-Vogt-Batten Syndrome: Definition and Description of Spielmeyer-Vogt-Batten Syndrome: Spielmeyer-Vogt-Batten Syndrome, also known simply as Batten Disease, is a rare neurological disorder primarily affecting children. This condition belongs to a group of disorders known as neuronal ceroid lipofuscinoses (NCLs), which are characterized by the accumulation of lipofuscin, a fatty substance, in the brain and other tissues.…

  • Primary Amyloidosis

    Primary Amyloidosis: Definition and Description of Primary Amyloidosis: Primary amyloidosis, also known as AL amyloidosis, is a rare disease that occurs when abnormal proteins, known as light chains, misfold and aggregate into fibrils. These fibrils deposit in various tissues and organs, disrupting normal function. The condition is often associated with an underlying plasma cell disorder…

  • Primary Cutaneous Amyloidosis

    Primary Cutaneous Amyloidosis: Definition and Description of Primary Cutaneous Amyloidosis: Primary Cutaneous Amyloidosis is a rare skin disorder characterized by the deposition of amyloid proteins in the skin. Amyloidosis refers to a group of diseases in which abnormal proteins called amyloid build up in organs and tissues. In primary cutaneous amyloidosis, this accumulation is localized…

  • Prader-Labhart-Willi Fancone Syndrome

    Prader-Labhart-Willi Fancone Syndrome: Definition and Description of Prader-Labhart-Willi Fancone Syndrome: Prader-Labhart-Willi Fancone Syndrome (PLWFS) is a rare neurogenetic disorder characterized by a combination of symptoms that significantly impact both physical and cognitive aspects of individuals affected by it. This syndrome is associated with genetic anomalies that occur due to the deletion of specific genes on…

  • Parathyroid, Underactivity of

    Parathyroid, Underactivity of: Definition and Description of Parathyroid, Underactivity of: ‘Parathyroid, Underactivity of’ (also known as hypoparathyroidism) is a medical condition characterized by insufficient production of parathyroid hormone (PTH) from the parathyroid glands. This hormone plays a crucial role in regulating calcium and phosphate levels in the blood, vital for maintaining bone health and functioning…

  • Paroxysmal Nocturnal Hemoglobinuria (PNH)

    Paroxysmal Nocturnal Hemoglobinuria (PNH): Definition and Description of Paroxysmal Nocturnal Hemoglobinuria (PNH): Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare, acquired bone marrow disorder characterized by the destruction of red blood cells (hemolysis), which leads to the release of hemoglobin into the urine. This condition occurs due to a mutation in the PIGA gene, resulting in…

  • Ocular Motor Apraxia, Cogan Type

    Ocular Motor Apraxia, Cogan Type: Definition and Description of Ocular Motor Apraxia, Cogan Type: Ocular Motor Apraxia, Cogan Type is a rare neurological condition characterized by an inability to initiate voluntary eye movements, particularly saccadic movements—those quick, simultaneous movements of both eyes in the same direction. This disorder is typically associated with dysfunction in the…

  • Oculocutaneous Albinism

    Oculocutaneous Albinism: Definition and Description of Oculocutaneous Albinism: Oculocutaneous Albinism (OCA) is a genetic condition characterized by a deficiency in the production of melanin, the pigment responsible for color in the skin, hair, and eyes. OCA affects both the skin and the eyes, resulting in lighter skin and hair color and various visual impairments. The…