An introduction to McArdle Disease
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- Опубліковано 29 чер 2024
- Dr Ros Quinlivan talks about the symptoms, diagnosis and management of the very rare muscle disorder McArdle Disease (also known as myophosphorylase deficiency or Glycogen Storage Disease Type 5). Filmed in 2010 by CLIMB (Children Living with Inherited Metabolic Disease), as part of a series funded by the UK Department of Health. The production and sound quality is poor, but the information is good.
Our thanks to CLIMB and to Dr Ros Quinlivan, who leads the UK McArdle Clinic at the National Hospital for Neurology and Neurosurgery, Queen Square, London WC1.
Everything I read about McArdle Disease says to avoid lifting weights or any other strenuous activity but I have found that if I ease into it and I am careful I can increase my muscle strength and mass without injuring myself. I have only done limited experimentation with this so far but within 3 months I was able to increase my ability to curl a 20 pound weight 10 times to being able to curl a 25 pound weight 30 times.
Also, after having not exercised with weights for the past 10 months I find that I am still able to do about 25 reps with a 20 pound weight and about 20 reps with a 25 pound weight.
CLIMB covers over 700 inherited metabolic diseases, so their name is no comment on us! The clinical service in the UK that covers McArdle Disease has the snappy title of "The National Diagnostic and Management Centre for McArdle Disease and Related Disorders".
Please refer to the internationally agreed Clinical Practice Guidelines for McArdle disease (GSD 5) published December 2021 in Neuromuscular Disorders the journal of the World Muscle Society.
www.iamgsd.org/clinical-practice-guidlines
I think it is just a bit ironic the name of the center is “CLIMB”. They know that’s something we aren’t very good at right? :)
Do please be careful. Are you having your blood CK (also known as CPK) checked? Best to at least once get it checked 24 hours after the session, as that is when it peaks. A McArdle person who is doing well will have about 500 iu/L, the average is about 2,400 iu/L. If yours is significantly higher you best get advice from an expert. You may cope well now, but you should realise it is people who have done strenuous jibs or activities like this who are the worst affected later in life.