Insight to variability of onset in Pompe
”Pompe Disease News“ reports on a new genetic variant which may help explain the variability of symptom onset in Pompe disease.
Neuromuscular Centre Open Day on 20 June
The Neuromuscular Centre at Winsford, Cheshire, is holding an Open Day on Thursday 20 June. Of special interest for muscle GSDs.
AGSD-UK hosts workshop to develop hepatic guidelines
In May AGSD-UK facilitated a meeting of UK metabolic specialists to discuss guidelines for management of hepatic GSDs.
Debut performance of new harp by GSD5 patient
Sioned Williams to give debut performance of new instrument, the Soveida Harp, which articulates its sound in eerie stereo.
IamGSD’s Global Walking Week starts 20 May
Every year people with muscle GSDs, particularly McArdle’s for which the most effective treatment is physical activity, participate in this walking week.
Are statistics your thing?
We‘ve been improving our database and ensuring GDPR compliance. We are now starting to have fascinating insights into our statistics.