Tag: diagnosis

  • Achilles Tendon Problems

    Achilles Tendon Problems Definition and Description of Achilles Tendon Problems Achilles tendon problems refer to a variety of conditions that affect the Achilles tendon, the large tendon that connects the calf muscles to the heel bone. The most common issues associated with this tendon include Achilles tendinitis, which is characterized by inflammation, and Achilles tendon…

  • 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…

  • Acquired Lipodystrophy

    Acquired Lipodystrophy Definition and Description of Acquired Lipodystrophy Acquired Lipodystrophy is a medical condition characterized by the abnormal distribution of body fat, with specific loss of adipose tissue from particular areas. This condition contrasts with congenital lipodystrophy, where the individual is born with it. Acquired lipodystrophy can result in significant metabolic consequences, including insulin resistance…

  • Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID)

    Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID) Definition and Description of Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID) Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID) is a rare genetic disorder characterized by the absence or dysfunction of the enzyme adenosine deaminase, which is crucial for the proper development and functioning of the immune system. This condition is categorized…

  • Aganglionic Megacolon

    Aganglionic Megacolon Definition and Description of Aganglionic Megacolon Aganglionic megacolon, also known as Hirschsprung’s disease, is a congenital condition characterized by the absence of ganglion nerve cells in a segment of the large intestine (colon). This lack of neural tissue leads to impaired peristalsis—the coordinated muscle contractions that facilitate bowel movements. Consequently, the affected segment…

  • Age-Related Macular Degeneration

    Age-Related Macular Degeneration Age-Related Macular Degeneration Definition and Description of Age-Related Macular Degeneration Age-Related Macular Degeneration (AMD) is a progressive eye condition that leads to the degeneration of the macula, a small area in the retina responsible for sharp central vision. This condition primarily affects older adults, resulting in blurred or reduced vision, and is…

  • Agnosia, Primary Visual

    Agnosia, Primary Visual Definition and Description of Agnosia, Primary Visual Agnosia, Primary Visual, is a neurological condition characterized by an inability to recognize or interpret visual stimuli, despite having intact vision. Individuals with primary visual agnosia can see and describe the properties of objects, such as color and shape, but they cannot comprehend what those…

  • AAT Deficiency

    AAT Deficiency Definition and Description of AAT Deficiency AAT deficiency, or Alpha-1 Antitrypsin Deficiency, is a genetic disorder characterized by low levels of alpha-1 antitrypsin (AAT), a protein produced by the liver that protects the lungs and other organs from damage caused by enzymes released by white blood cells. This deficiency can lead to various…

  • Absence Seizure

    Absence Seizure Definition and Description of Absence Seizure Absence seizures, also known as petit mal seizures, are a type of epileptic seizure characterized by brief lapses in awareness. These seizures typically last for a few seconds and may occur multiple times throughout the day. People experiencing absence seizures may appear to stare blankly into space…

  • Acanthosis Bullosa

    Acanthosis Bullosa Definition and Description of Acanthosis Bullosa Acanthosis bullosa, often characterized by skin changes, is a dermatological condition where there is an abnormal thickening of the stratum corneum, which is the outermost layer of the skin. It is commonly associated with insulin resistance but can also occur in other contexts. The condition can manifest…