There seems great variability in symptoms, some patients experiencing muscle issues, others with heart involvement. Symptoms commonly present in adulthood, with progressive muscle weakness and exercise intolerance.
Estimated cases diagnosed worldwide: <10.
IAMGSD would welcome hearing from patients or doctors who could help us to improve and expand our information on this extremely rare muscle GSD.
Affected individuals are assessed on an individual basis and treated according to their symptoms.
It is very likely that with the advent of Next Generation Sequencing and a gene panel for conditions which can be the cause of rhabdomyolysis, more cases of GSD15 will be identified. As understanding of the condition grows, IAMGSD will be able to offer better support for this extremely rare muscle GSD.