Tag: personal stories

  • EDMD

    EDMD Definition and Description of EDMD EDMD, or Emery-Dreifuss Muscular Dystrophy, is a rare genetic disorder characterized by muscle weakness and wasting, particularly affecting the shoulder, upper arm, and lower leg muscles. It also impacts the heart, leading to potential cardiovascular issues. This condition typically manifests during childhood or early adulthood, with symptoms progressively worsening…

  • Dyslexia

    Dyslexia Dyslexia Definition and Description of Dyslexia Dyslexia is a specific learning disability that is neurobiological in origin. It is characterized by difficulties with accurate and/or fluent word recognition and by poor spelling and decoding abilities. These challenges are typically associated with a deficit in the phonological component of language and are unexpected in relation…

  • Dysmyelogenic Leukodystrophy

    Dysmyelogenic Leukodystrophy Definition and Description of Dysmyelogenic Leukodystrophy Dysmyelogenic Leukodystrophy is a rare neurodegenerative disorder characterized by abnormal development or maintenance of myelin, the protective sheath surrounding nerve fibers in the central nervous system. This dysfunction affects the brain’s ability to transmit signals efficiently, leading to a range of neurological impairments. The condition is typically…

  • Dysphonia Spastica

    Dysphonia Spastica Definition and Description of Dysphonia Spastica Dysphonia spastica, also known as spasmodic dysphonia, is a voice disorder characterized by involuntary spasms of the vocal cords, resulting in interrupted or distorted voice production. Individuals with this condition experience difficulty in controlling their vocal cords, which can lead to a strained, choppy, or breathy voice.…

  • Eating Disorder, Pica Type

    Eating Disorder, Pica Type Definition and Description of Eating Disorder, Pica Type Eating Disorder, Pica Type is characterized by the persistent consumption of non-nutritive, non-food substances for a duration of at least one month. This behavior diverges from culturally supported practices and can occur in various populations, including children and adults. The Diagnostic and Statistical…

  • 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…

  • Ebola

    Ebola Definition and Description of Ebola Ebola, also known as Ebola virus disease (EVD), is a severe and often fatal illness in humans characterized by high fever, severe headache, joint and muscle aches, sore throat, and gastrointestinal issues. The disease is caused by the Ebola virus, which is a member of the Filoviridae family. The…

  • Ectodermal Dysplasia, Rapp-Hodgkin type

    Ectodermal Dysplasia, Rapp-Hodgkin type Definition and Description of Ectodermal Dysplasia, Rapp-Hodgkin type Ectodermal Dysplasia, Rapp-Hodgkin type, is a genetic disorder characterized by the abnormal development of ectodermal structures. It primarily affects the skin, hair, nails, and teeth, resulting in a variety of physical anomalies. This type of ectodermal dysplasia is hereditary and often leads to…

  • 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…

  • Ectopia Cordis

    Ectopia Cordis Definition and Description of Ectopia Cordis Ectopia Cordis is a rare congenital defect in which the heart is partially or totally located outside of the thoracic cavity. This condition occurs during embryonic development, typically between the third and fourth week of gestation, when the chest wall fails to close properly. Ectopia Cordis can…