McArdle’s Disease Symptoms, Effects and Treatment

McArdle's Disease

McArdle’s Disease is rare disease that affects 1 in 100,000 people. McArdle’s disease is caused by a mutation in the PYGM gene on the 11th chromosome. The PYGM gene, Phosphorylase Glycogen Muscle gene, is responsible for synthesizing Myophosphorylase, an enzyme crucial for releasing stored energy. McArdle’s can only surface when a child inherits a mutated chromosome 11 from each parent; meaning both parents carries the mutation.

Symptoms of McArdle’s:

McArdle’s is often ignored and not diagnosed until 20 or 30 years of age. Please read the following carefully to prevent your child from the dangerous effects of McArdle’s.

1. Red coloured urine after exercise
2. Very poor stamina
3. Intense cramps with minimal exertion
4. Stiffness or weakness in muscles
5. Constant fatigue

Effects of McArdle’s:

• Defect PYGM gene
  Myophophorylase deficiency

• Unable to release stored energy from muscle
  Poor stamina
  Fatigue and cramps

• Intensive exercise may cause degeneration of muscles
  Release of Myoglobin

• Myoglobin removed in urine
  Red coloured urine
  Known as Myoglobinuria

• Myoglobinuria may cause renal failure
  Early diagnosing and lifestyle modifications are crucial

If your child shows signs of McArdle’s please send him for the follow diagnostic test:
• Creatine Kinase Test
• Muscle Biopsy

Treatment for McArdle’s:

• No treatments
• Avoid intensive exercise
• Stop activity immediately when pain is felt
• Drink plenty of water to be constantly hydrated
• Seek medical attention if unwell or no urine production
• Maintain healthy BMI
• Keep fit by doing light exercises like walking or cycling

Leave a Reply

Your email address will not be published. Required fields are marked *