What is McArdle's Disease? :Glycogen Storage Disease Type 5 Symptoms-Causes- Second Wind Phenomenon

[@IAMGSDvideos]

Well done for the video, but I need to correct a few points. • Prevalence not 1:1,000 You correctly display the approx prevalence of 1:100,000, but unfortunately you say 1 in 1,000. • Presents more in men than in women This is not the case in any consistent way across different cohorts. • Pain due to glycogen buildup We tend to have 2 to 3 times the normal level of glycogen in our muscles and yet are pain-free most of the time, pain occurs due to activity causing muscle breakdown. • Once in second-wind we can exercise pain-free for 45 minutes Second-wind increases the amount we can do without pain, but does not remove the problem completely. If we stay within our limits we can be active all day, there is no 45 minute limit. • Diagnose from lactate response The forearm exercise test for lactic response is not diagnostic for McArdle’s as the failure of lactate to rise occurs in other muscle conditions as well. Genetic testing or a muscle biopsy are required for diagnosis. • Onset before age 15 In fact symptoms are present before the age of 5, even if in some cases this does not result in presentation to a doctor.

[@yousefalhassan5212]

Absolutely correct ✔

[@NextMeds]

GOOD VIDEO!THANK YOU