What are the Signs and Symptoms of Pompe Disease?

What are the Signs and Symptoms of Pompe Disease?

Pompe disease, also known as acid maltase deficiency or glycogen storage disease type II, is a rare genetic disorder that affects the muscles and often leads to muscle weakness and other health issues. Symptoms of Pompe disease can vary in onset, severity, and progression. Common signs and symptoms include:

  1. Muscle Weakness:
    • Progressive muscle weakness, especially affecting the muscles closest to the trunk, such as the hips, thighs, shoulders, and upper arms.
  2. Hypotonia (Low Muscle Tone):
    • Reduced muscle tone, making movements and holding the body upright difficult.
  3. Respiratory Issues:
    • Breathing difficulties, especially during sleep, which may manifest as snoring, sleep apnea, or other respiratory problems.
  4. Fatigue and Exercise Intolerance:
    • Fatigue and inability to sustain physical activity or exercise for extended periods.
  5. Motor Development Delays:
    • Delayed motor skills development, particularly in infants and children.
  6. Enlarged Heart (Cardiomegaly):
    • Enlargement of the heart due to the accumulation of glycogen in heart muscles.
  7. Difficulty Speaking and Swallowing:
    • Problems with speech and swallowing, including difficulties in chewing and swallowing solid foods.
  8. Scoliosis:
    • Abnormal curvature of the spine, which can worsen over time.
  9. Frequent Falls:
    • Increased tendency to fall, particularly in children, due to muscle weakness and coordination issues.
  10. Joint Stiffness and Pain:
    • Stiffness, pain, or limited mobility in the joints.
  11. Delayed Growth:
    • Slower growth in children compared to peers of the same age.

It’s important to note that the severity and progression of Pompe disease can vary widely, even among affected family members. Early diagnosis and intervention, often through enzyme replacement therapy, can help manage symptoms and improve the quality of life for individuals with Pompe disease. If you suspect Pompe disease or observe any of these symptoms, consult a healthcare professional for proper evaluation and diagnosis.

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