An international online survey gathered the experience of 162 people with McArdle’s disease, with a median age of 52:
- the median age at diagnosis was 28 and at onset of symptoms 5 years;
- the median fatigue score reflected moderate to severe fatigue; the median disability acceptance score reflected moderate acceptance;
- the greatest difficulties experienced were the delay in diagnosis, the rarity of the disease and its unfamiliarity to carers, muscular pain, lack of understanding by others and the absence of any prospect of treatment;
- the greatest challenge was the impossibility of planning activities, due in particular to unstable motor performance, the onset of cramps, fear management…
- only 15% said they made no adjustments in their daily lives, while the others avoided exertion or even did no physical activity at all.
An important coping strategy was to communicate about one’s limitations without being embarrassed by them, to accept one’s abilities and to maintain an active lifestyle.
