Tag: rare diseases

  • Eaton-Lambert Syndrome

    Eaton-Lambert Syndrome Definition and Description of Eaton-Lambert Syndrome Eaton-Lambert Syndrome (ELS) is a rare autoimmune disorder that affects the neuromuscular junction, where nerve cells communicate with the muscles they control. It is characterized by muscle weakness that improves with exercise. This syndrome is often associated with small cell lung cancer (SCLC) and is classified as…

  • EB

    Understanding Epidermolysis Bullosa (EB) Definition and Description of EB Epidermolysis Bullosa (EB) is a rare genetic disorder characterized by fragile skin that blisters easily in response to minor injuries, heat, or friction. The condition results from mutations in genes responsible for producing proteins that help anchor the layers of skin together. This leads to a…

  • Ectodermosis Erosiva Pluriorificialis

    Ectodermosis Erosiva Pluriorificialis Definition and Description of Ectodermosis Erosiva Pluriorificialis Ectodermosis Erosiva Pluriorificialis is a rare dermatological condition characterized by erosive lesions that predominantly affect the mucosal surfaces of the body. This condition often leads to significant discomfort and may severely impair the quality of life due to its painful symptoms. It is classified within…

  • DMD

    Duchenne Muscular Dystrophy (DMD) – A Comprehensive Guide Duchenne Muscular Dystrophy (DMD) Definition and Description of DMD Duchenne Muscular Dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness. This condition is caused by a mutation in the dystrophin gene, which is critical for maintaining the structural integrity of muscle cells. DMD…

  • Duchenne Muscular Dystrophy

    Duchenne Muscular Dystrophy Definition and Description of Duchenne Muscular Dystrophy Duchenne Muscular Dystrophy (DMD) is a severe type of muscular dystrophy characterized by rapid progression of muscle degeneration, ultimately leading to loss of mobility and muscle wasting. DMD primarily affects boys, with onset typically during early childhood, and is caused by mutations in the dystrophin…

  • D Trisomy Syndrome

    D Trisomy Syndrome Definition and Description of D Trisomy Syndrome D Trisomy Syndrome, also known as Trisomy D or 2q37 deletion syndrome, is a rare chromosomal disorder resulting from the presence of an extra chromosome 2 in an individual’s cells. This additional genetic material alters the normal development and function of various bodily systems. Typically…

  • Dandy Fever

    Dandy Fever Definition and Description of Dandy Fever Dandy Fever is a rare and misunderstood medical condition often characterized by a combination of symptoms that can mimic other infectious diseases. It is named after a prominent physician who contributed to its recognition in medical literature. The illness typically presents with fever, malaise, headaches, and sometimes,…

  • DBA

    DBA Definition and Description of DBA Diamond-Blackfan Anemia (DBA) is a rare blood disorder characterized by a failure of the bone marrow to produce red blood cells. This congenital form of anemia is typically diagnosed in childhood and can lead to symptoms related to reduced oxygen transport in the bloodstream. DBA is believed to have…

  • Cystic Fibrosis Carrier Screening

    Cystic Fibrosis Carrier Screening Cystic Fibrosis Carrier Screening Definition and Description of Cystic Fibrosis Carrier Screening Cystic Fibrosis Carrier Screening is a genetic test that determines whether an individual carries one of the mutations that cause cystic fibrosis (CF). CF is a serious hereditary condition that affects the lungs and digestive system. Carriers do not…

  • Cold Agglutinin Disease

    Cold Agglutinin Disease Definition and Description of Cold Agglutinin Disease Cold Agglutinin Disease (CAD) is a rare form of autoimmune hemolytic anemia characterized by the presence of cold agglutinins in the blood. These are antibodies that mistakenly target and destroy red blood cells when exposed to cold temperatures, leading to symptoms like fatigue, weakness, and…