Tag: supportive therapies

  • MPS II

    MPS II: Definition and Description of MPS II: MPS II, also known as Hunter syndrome, is a rare genetic disorder categorized under mucopolysaccharidosis. It arises from a deficiency of the enzyme iduronate-2-sulfatase (I2S), which is critical for the breakdown of glycosaminoglycans (GAGs). This enzyme deficiency leads to an accumulation of GAGs in various tissues and…

  • Infantile Myoclonic Encephalopathy

    Infantile Myoclonic Encephalopathy Definition and Description of Infantile Myoclonic Encephalopathy Infantile Myoclonic Encephalopathy (IME) is a rare and serious neurological disorder that primarily affects infants and young children. It is characterized by recurring myoclonic jerks, which are sudden, involuntary muscle spasms. These jerks can involve the arms, legs, and face, leading to significant developmental delays…