Tag: genetic disorders

  • Childhood Muscular Dystrophy

    Childhood Muscular Dystrophy Definition and Description of Childhood Muscular Dystrophy Childhood Muscular Dystrophy (CMD) refers to a group of genetic disorders characterized by progressive muscle weakness and degeneration. These conditions are primarily caused by mutations in genes responsible for the structure and function of muscle cells. The most common type of CMD is Duchenne Muscular…

  • Chanarin Dorfman Disease

    Chanarin Dorfman Disease Definition and Description of Chanarin Dorfman Disease Chanarin Dorfman Disease, also known as Chanarin-Dorfman syndrome, is a rare inherited condition characterized by a specific combination of symptoms. This disorder primarily affects the metabolism of lipids—fats in the body—leading to various manifestations including adipose tissue abnormalities and ocular problems. The condition is usually…

  • C1-INH

    C1-INH Definition and Description of C1-INH C1-INH, or C1 inhibitor, is a crucial protein in the human body that plays a vital role in regulating the complement and coagulation systems. It is responsible for inhibiting various enzymes involved in inflammation and blood clotting, thereby maintaining homeostasis. A deficiency or dysfunction in C1-INH can lead to…

  • Batten Disease

    Batten Disease Definition and Description of Batten Disease Batten Disease, scientifically known as Neuronal Ceroid Lipofuscinosis (NCL), is a rare genetic disorder that primarily affects the nervous system. It is characterized by the accumulation of lipopigments in the body’s tissues, causing progressive neurological degeneration. This condition is most commonly diagnosed in children and leads to…

  • Bartter’s Syndrome

    Bartter’s Syndrome Definition and Description of Bartter’s Syndrome Bartter’s Syndrome is a rare, inherited kidney disorder characterized by a defect in the tubules of the kidneys. This defect impairs the body’s ability to reabsorb sodium and chloride, leading to an imbalance of electrolytes. Patients with Bartter’s Syndrome typically experience symptoms of hypokalemia (low potassium levels),…

  • Autosomal Dominant Polycystic Kidney Disease

    Autosomal Dominant Polycystic Kidney Disease Definition and Description of Autosomal Dominant Polycystic Kidney Disease Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a hereditary condition characterized by the growth of numerous cysts in the kidneys. These cysts are abnormal sacs filled with fluid that can disrupt normal kidney function over time. ADPKD is primarily caused by…

  • Axonal Neuropathy, Giant

    Axonal Neuropathy, Giant Definition and Description of Axonal Neuropathy, Giant Axonal Neuropathy, Giant is a form of peripheral neuropathy characterized by damage to the axons of peripheral nerves. This condition affects the transmission of signals between the brain, spinal cord, and extremities, leading to various sensory and motor dysfunctions. Axonal neuropathy can be classified as…

  • Arginase Deficiency

    Arginase Deficiency Definition and Description of Arginase Deficiency Arginase Deficiency is a rare inherited metabolic disorder that prevents the body from breaking down a specific amino acid called arginine. This condition belongs to a group of disorders known as urea cycle disorders, which interfere with the body’s ability to remove ammonia, a toxic byproduct of…

  • AloBar Holoprosencephaly

    AloBar Holoprosencephaly Definition and Description of AloBar Holoprosencephaly AloBar Holoprosencephaly is a severe neurological condition that occurs during early fetal development when the forebrain (prosencephalon) fails to properly divide into two hemispheres. This condition is characterized by the incomplete formation of the brain and skull, leading to a range of developmental and physical abnormalities. AloBar…

  • Achondroplastic Dwarfism

    Achondroplastic Dwarfism Definition and Description of Achondroplastic Dwarfism Achondroplastic Dwarfism is a genetic disorder characterized by an abnormality in the development of cartilage, particularly affecting the long bones of the body. It results in disproportionate dwarfism, where individuals typically have a normal-sized torso but shorter limbs. This condition is caused by a mutation in the…