Tag: childhood disease

  • Infantile Spinal Muscular Atrophy Type I

    Infantile Spinal Muscular Atrophy Type I Definition and Description of Infantile Spinal Muscular Atrophy Type I Infantile Spinal Muscular Atrophy Type I (SMA Type I) is a rare genetic disorder characterized by the progressive degeneration of the motor neurons in the spinal cord and brainstem. This leads to severe muscle weakness and atrophy, impacting the…

  • Galactocerebrosidase (GALC) Deficiency

    Galactocerebrosidase (GALC) Deficiency Definition and Description of Galactocerebrosidase (GALC) Deficiency Galactocerebrosidase (GALC) deficiency is a rare inherited metabolic disorder characterized by the deficiency of the galactocerebrosidase enzyme. This enzyme is essential for the breakdown of galactolipids, which are crucial components of myelin, the protective sheath that surrounds nerve fibers in the central nervous system. The…

  • 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…