Tag: genetic disorder

  • 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…

  • Dowling-Meara Syndrome

    Dowling-Meara Syndrome Definition and Description of Dowling-Meara Syndrome Dowling-Meara Syndrome is a rare genetic disorder characterized primarily by palmoplantar keratoderma, which is a thickening of the skin on the palms and soles. It is considered a form of keratoderma that can also involve the nails and may lead to pain and complications in mobility. As…

  • Down Syndrome

    Down Syndrome Definition and Description of Down Syndrome Down Syndrome, also known as Trisomy 21, is a genetic disorder caused by the presence of an extra 21st chromosome. This condition leads to developmental delays, distinct facial features, and a range of health issues. Medically, Down Syndrome can be classified into three types: Standard Trisomy 21,…

  • 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…

  • A1AT Deficiency

    A1AT Deficiency Definition and Description of A1AT Deficiency Alpha-1 Antitrypsin Deficiency (A1AT deficiency) is a genetic disorder that results in insufficient levels of alpha-1 antitrypsin (A1AT), a protein produced in the liver. A1AT serves as a critical inhibitor of enzymes that can damage tissues, particularly in the lungs and liver. Without adequate A1AT, individuals may…

  • Cystic Fibrosis

    Cystic Fibrosis Definition and Description of Cystic Fibrosis Cystic Fibrosis (CF) is a genetic disorder that affects the respiratory, digestive, and reproductive systems. It is caused by mutations in the CFTR gene, which leads to the production of thick, sticky mucus in various organs. This abnormal mucus can clog the airways in the lungs, leading…

  • Classic Galactosemia

    Classic Galactosemia Definition and Description of Classic Galactosemia Classic Galactosemia is a rare genetic disorder that affects how the body processes galactose, a sugar found in milk and dairy products. This condition arises from a deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT), which is crucial for breaking down galactose into glucose. Without proper enzyme function,…

  • CF (Cystic Fibrosis)

    CF (Cystic Fibrosis) Definition and Description of CF (Cystic Fibrosis) Cystic Fibrosis (CF) is a genetic disorder that primarily affects the lungs and digestive system. It is characterized by the production of thick and sticky mucus that can clog airways and lead to severe respiratory and digestive problems. CF results from mutations in the CFTR…

  • Canavan Disease

    Canavan Disease Definition and Description of Canavan Disease Canavan Disease is a rare genetic disorder categorized as a type of leukodystrophy, characterized by the progressive degeneration of the brain’s white matter. It occurs due to a deficiency of the enzyme aspartoacylase, which is essential for metabolizing N-acetyl aspartate (NAA), a compound found in myelin and…

  • Brittle Bone Disease

    Brittle Bone Disease Definition and Description of Brittle Bone Disease Brittle Bone Disease, also known as Osteogenesis Imperfecta (OI), is a genetic disorder characterized by fragile bones that break easily. This condition results from a defect in the production of collagen, a protein that provides structure and strength to bones. Individuals with this disorder may…