Tag: rare diseases

  • Arteritis, Takayasu

    Arteritis, Takayasu Definition and Description of Arteritis, Takayasu Arteritis, Takayasu, also known as Takayasu arteritis, is a rare type of large vessel vasculitis that primarily affects the aorta and its major branches. Characterized by inflammation of the arterial wall, this condition can lead to stenosis (narrowing), occlusion (blockage), and, in severe cases, aneurysm formation. Takayasu…

  • Appalachian Type Amyloidosis

    Appalachian Type Amyloidosis Definition and Description of Appalachian Type Amyloidosis Appalachian Type Amyloidosis is a rare form of amyloidosis characterized by the deposition of abnormal proteins, known as amyloid fibrils, in tissues and organs. This condition is particularly prevalent in certain regions of the Appalachian Mountains, hence its name. Amyloidosis can severely affect various organ…

  • Alexander Disease

    Alexander Disease Definition and Description of Alexander Disease Alexander Disease is a rare and progressive neurological disorder that primarily affects the myelin sheath, which is the protective covering surrounding nerve fibers in the central nervous system. This disease is characterized by the accumulation of abnormal proteins known as Rosenthal fibers in glial cells, which disrupts…

  • Achalasia

    Achalasia Definition and Description of Achalasia Achalasia is a rare esophageal disorder characterized by the inability of the lower esophageal sphincter (LES) to relax properly. This malfunction prevents food and liquid from passing into the stomach, leading to various complications. The term “achalasia” is derived from the Greek words “a-” meaning “without,” “chalasis,” meaning “relaxation.”…

  • Agnogenic Myeloid Metaplasia (AMM)

    Agnogenic Myeloid Metaplasia (AMM) Definition and Description of Agnogenic Myeloid Metaplasia (AMM) Agnogenic Myeloid Metaplasia (AMM), often referred to as myelofibrosis, is a rare bone marrow disorder that disrupts the body’s normal production of blood cells. It is categorized as a type of chronic myeloproliferative neoplasm (MPN). In AMM, the bone marrow becomes fibrotic, leading…

  • Abercrombie Syndrome

    Abercrombie Syndrome Definition and Description of Abercrombie Syndrome Abercrombie Syndrome, also known as Abercrombie hypoplasia, is a rare genetic disorder characterized by a variety of developmental anomalies. Initially identified by the medical community, this syndrome primarily affects the development of skeletal structures and muscular systems. Patients with Abercrombie Syndrome may exhibit distinctive facial features, short…