Tag: rare diseases

  • Familial Chordoma

    Familial Chordoma Definition and Description of Familial Chordoma Familial Chordoma is a rare type of bone tumor that primarily develops along the spine and base of the skull. It arises from notochordal remnants, which are embryonic structures that eventually form the spinal column. Familial Chordoma is characterized by its hereditary nature, often occurring in families…

  • Familial Cutaneous Amyloidosis

    Familial Cutaneous Amyloidosis Definition and Description of Familial Cutaneous Amyloidosis Familial Cutaneous Amyloidosis is a rare genetic disorder characterized by the deposition of amyloid protein in the skin. Amyloid is an abnormal protein produced by cells in the bone marrow and can accumulate in various tissues and organs. In familial cutaneous amyloidosis, this deposition primarily…

  • Fibrinoid Leukodystrophy

    Fibrinoid Leukodystrophy Definition and Description of Fibrinoid Leukodystrophy Fibrinoid Leukodystrophy is a rare neurological disorder characterized by the degeneration of white matter in the brain. This condition is associated with the accumulation of fibrinoid material that disrupts normal brain function. It primarily affects the myelin sheath, which is essential for the proper conduction of electrical…

  • Facio-Scapulo-Humeral Dystrophy

    Facio-Scapulo-Humeral Dystrophy Definition and Description of Facio-Scapulo-Humeral Dystrophy Facio-Scapulo-Humeral Dystrophy (FSHD) is a genetic muscle disorder that primarily affects the muscles of the face, shoulder blades, and upper arms. It is characterized by progressive weakness and wasting of the muscles, leading to functional impairment. This condition is caused by a deletion of a specific region…

  • Fahr’s Disease

    Fahr’s Disease Definition and Description of Fahr’s Disease Fahr’s Disease, also known as bilateral striopallidodentate calcinosis, is a rare neurological disorder characterized by the abnormal accumulation of calcium deposits in specific areas of the brain. This condition primarily affects the basal ganglia and other deep-seated regions, leading to a variety of neurological and psychological symptoms.…

  • Episodic Ataxia

    Episodic Ataxia Definition and Description of Episodic Ataxia Episodic Ataxia (EA) refers to a group of rare neurological disorders characterized by recurrent episodes of incoordination and imbalance. These episodes can vary in duration and intensity and usually involve difficulty with voluntary movements, leading to a staggering gait or difficulty speaking. Medical definitions classify episodic ataxia…

  • 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…

  • Edward’s Syndrome

    Edward’s Syndrome Definition and Description of Edward’s Syndrome Edward’s Syndrome, also known as Trisomy 18, is a genetic disorder caused by the presence of an extra 18th chromosome in a person’s cells. This condition is characterized by a spectrum of developmental and physical abnormalities, affecting multiple organ systems. The severity of symptoms can vary greatly;…

  • Ekman-Lobstein Disease

    Ekman-Lobstein Disease Definition and Description of Ekman-Lobstein Disease Ekman-Lobstein Disease, also known as Osteogenesis Imperfecta (OI), is a genetic disorder characterized by fragile bones that break easily. This disease results from a defect in the genes responsible for producing collagen, an essential protein that gives bones their strength. Individuals with this condition often experience frequent…

  • Encephalofacial Angiomatosis

    Encephalofacial Angiomatosis Definition and Description of Encephalofacial Angiomatosis Encephalofacial Angiomatosis is a rare neurocutaneous disorder characterized by the presence of facial vascular malformations and associated neurological anomalies. This condition encompasses the abnormal development of blood vessels in the brain and face, which can lead to various complications. It is often associated with conditions such as…