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Mcardle-Disease-Faqs

Medically Reviewed by dr. simi paknikar, MD on Nov 15, 2019


Frequently Asked Questions

1. What doctor treats McArdle disease?

A pediatrician /general physician/ orthopedician may diagnose the disease. An expert in Physical Medicine can advise you regarding the recommended graded exercises.

2. I have McArdle disease. Should I abstain from all physical activities?

Intense physical activity should be avoided. Regular and moderate exercise is recommended to improve exercise capacity.


3. Is there a particular diet for patients with McArdle disease?

A high-protein diet may increase exercise tolerance, but this is controversial. Oral sucrose administration before exercise may improve symptoms. Creatine and vitamin B6 supplementation improve muscle function in some patients.

4. I have McArdle disease. Can my child acquire the same?


McArdle disease is inherited in an autosomal recessive pattern, i.e. a copy of the defective gene from both parents is required for the child to develop the serious ailment. Many people carry one copy of the abnormal gene. Two abnormal copies are needed for McArdle disease to develop.

5. Is McArdle disease preventable?

Being a disease caused by genetic mutations (PYGM gene is involved), McArdle disease cannot be prevented. Genetic counselling is advised to individuals with the disease.

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