Tag: SMN1 gene

  • Spinal Muscular Atrophy (SMA)

    Spinal Muscular Atrophy (SMA): Definition and Description of Spinal Muscular Atrophy (SMA): Spinal Muscular Atrophy (SMA) is a genetic disorder characterized by the loss of motor neurons in the spinal cord, leading to muscle weakness and atrophy. It is caused by a deficiency of the survival motor neuron (SMN) protein, which is essential for the…

  • 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…

  • Infantile Spinal Muscular Atrophy Type I

    Infantile Spinal Muscular Atrophy Type I Definition and Description of Infantile Spinal Muscular Atrophy Type I Infantile Spinal Muscular Atrophy Type I (SMA Type I) is a rare genetic disorder characterized by the progressive degeneration of the motor neurons in the spinal cord and brainstem. This leads to severe muscle weakness and atrophy, impacting the…