Tag: Occupational Therapy

  • 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…

  • Facioscapulohumeral Muscular Dystrophy

    Facioscapulohumeral Muscular Dystrophy Definition and Description of Facioscapulohumeral Muscular Dystrophy Facioscapulohumeral Muscular Dystrophy (FSHD) is a genetic disorder characterized by progressive weakness and wasting of the muscles in the face, shoulders, and upper arms. It is one of the most common types of muscular dystrophy, affecting approximately 1 in 20,000 people worldwide. FSHD is caused…

  • Childhood Giant Axonal Neuropathy

    Childhood Giant Axonal Neuropathy Definition and Description of Childhood Giant Axonal Neuropathy Childhood Giant Axonal Neuropathy (CGAN) is a rare inherited neurological disorder primarily affecting children. It is characterized by the abnormal growth of axons—long projections of nerve cells that transmit signals—resulting in progressive muscle weakness and atrophy. The condition is caused by mutations in…

  • 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…

  • Charcot-Marie-Tooth Disease

    Charcot-Marie-Tooth Disease Definition and Description of Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease (CMT) is a group of inherited neurological disorders that affect the peripheral nerves, which are responsible for transmitting signals between the brain, spinal cord, and the rest of the body. CMT results in muscle weakness, atrophy, and sensory loss, typically beginning in the feet and…

  • Bulbospinal Muscular Atrophy, X-linked

    Bulbospinal Muscular Atrophy, X-linked Definition and Description of Bulbospinal Muscular Atrophy, X-linked Bulbospinal Muscular Atrophy, X-linked (BSMA) is a genetic disorder characterized by the degeneration of motor neurons in the brainstem and spinal cord, leading to muscle weakness and atrophy. This condition is caused by mutations in the gene coding for the androgen receptor (AR)…

  • Agenesis of Corpus Callosum

    Agenesis of Corpus Callosum Definition and Description of Agenesis of Corpus Callosum Agenesis of Corpus Callosum (ACC) is a congenital condition characterized by the partial or complete absence of the corpus callosum, the structure that connects the left and right hemispheres of the brain. This essential brain structure facilitates communication between the two sides, playing…

  • 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…