What are the Symptoms of Hunter Syndrome?

Hunter syndrome, also known as mucopolysaccharidosis II (MPS II), is a rare genetic disorder that primarily affects males. It’s a progressive condition characterized by the buildup of certain complex carbohydrates in various tissues and organs due to the deficiency of an enzyme needed to break them down. Symptoms can vary in severity, and they typically start to appear in early childhood. Here are the key symptoms of Hunter syndrome:

  1. Facial and Skeletal Features:
    • Coarse facial features, including a broad nose, prominent forehead, thickened lips, enlarged tongue, and widely spaced teeth.
  2. Organomegaly:
    • Enlarged liver and spleen (hepatosplenomegaly) due to the accumulation of substances in these organs.
  3. Joint Stiffness and Contractures:
    • Progressive stiffness and limited range of motion in joints, leading to joint contractures and difficulty in movement.
  4. Hernias:
    • Inguinal and umbilical hernias may be present due to weak abdominal muscles.
  5. Respiratory Problems:
    • Respiratory difficulties, including shortness of breath, recurrent respiratory infections, and sleep apnea.
  6. Cardiovascular Issues:
    • Heart-related problems, such as enlarged heart (cardiomegaly), valvular abnormalities, and thickening of the heart valves.
  7. Neurological Symptoms:
    • Neurological deterioration, including cognitive decline, learning disabilities, hyperactivity, and behavioral issues.
  8. Developmental Delay:
    • Delayed development in reaching developmental milestones such as crawling, walking, and talking.
  9. Hearing Loss:
    • Progressive hearing loss, which can lead to deafness over time.
  10. Corneal Clouding:
    • Clouding of the clear front surface of the eye (cornea), which can impact vision.
  11. Enlarged Head (Macrocephaly):
    • Unusually large head size due to accumulation of substances in the brain and skull.
  12. Hypertension:
    • High blood pressure may develop as a result of cardiovascular involvement.
  13. Gastrointestinal Issues:
    • Digestive problems such as diarrhea, abdominal pain, and difficulty swallowing.
  14. Carpal Tunnel Syndrome:
    • Compression of the median nerve in the wrist, leading to symptoms like hand numbness, tingling, and weakness.
  15. Hirsutism:
    • Excessive hair growth, particularly on the face and body.

Hunter syndrome is a progressive disorder, and the severity and progression of symptoms can vary widely among individuals. Early diagnosis and appropriate management are crucial to provide supportive care and potentially slow down the progression of the disease, improving the quality of life for affected individuals and their families.

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