Tag: muscle atrophy

  • X-linked Adult Spinal Muscular Atrophy

    X-linked Adult Spinal Muscular Atrophy

    Explore the complexities of X-linked Adult Spinal Muscular Atrophy (XL-SMA), a rare hereditary neurodegenerative disorder affecting primarily males. This blog post delves into the causes, symptoms, diagnosis, and management of XL-SMA, emphasizing the importance of early intervention and ongoing support for those affected. Gain insights into personal experiences and resources available for patients and families…

  • Pompe Disease

    Pompe Disease: Definition and Description of Pompe Disease: Pompe Disease, also known as Glycogen Storage Disease Type II, is a rare genetic disorder that affects the body’s ability to break down glycogen—a stored form of sugar used as energy. This disorder is caused by a deficiency of the enzyme acid alpha-glucosidase, which leads to the…

  • Multifocal Motor Neuropathy

    Multifocal Motor Neuropathy: Definition and Description of Multifocal Motor Neuropathy: Multifocal Motor Neuropathy (MMN) is a rare neurological disorder characterized by weakness and muscle atrophy due to the progressive degeneration of peripheral motor nerves. Unlike other neuropathies that affect sensory nerves, MMN primarily impairs the motor function of the muscles, leading to difficulties in movement.…

  • Infantile Spinal Muscular Atrophy

    Infantile Spinal Muscular Atrophy Definition and Description of Infantile Spinal Muscular Atrophy Infantile Spinal Muscular Atrophy (SMA) is a genetic disorder characterized by the loss of motor neurons in the spinal cord and the brainstem. This degeneration leads to muscle weakness and atrophy, primarily affecting the muscles responsible for movement. The severity of SMA symptoms…

  • 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…