Is there an explanation for the muscle fatigue and the aches and pains post exercise that seem to be associated with Noonan’s?
This is something that occurs across the whole Rasopathy pathway and it’s been very slow to come to the forefront of the medical community but it is the subject of ongoing research. People wonder if there’s intrinsic differences in the muscle and in the meeting we’re having in Milan in June there’s quite a big section on energy metabolism and muscle issues so I think we will get some understanding of it but all we can say now is that it’s real but we don’t yet understand the actual physiological basis for it. From the point of view of Neurofibromatosis Type 1 that is obviously different to Noonan Syndrome but another disorder of the Ras MAPK Pathway, we have a pilot study that’s just starting in Manchester about fatigue and we did a scoping exercise with a Google-based questionnaire and had a fantastic response very quickly. That’s been catalytic to us having an observational study of fatigue piloting an intervention about things that might improve muscle stamina in due course in a group of people who have NF1. If that’s successful it could have implications for other disorders of the pathway.
Question asked and answered at our family’s day 2018