Tag: health advocacy

  • RTS — Rett Syndrome

    RTS — Rett Syndrome: Definition and Description of RTS — Rett Syndrome: Rett Syndrome (RTS) is a rare neurodevelopmental disorder primarily affecting females. It is characterized by a period of normal development followed by a loss of purposeful hand skills, impaired speech, and developmental regression. The condition is linked to mutations in the MECP2 gene…

  • 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…