Gathered at the initiative of the International Association for Muscle Glycogen Storage Disease, European and North American specialists have developed practical guidelines for the diagnosis, monitoring and treatment of two muscle glycogen storage diseases:
- McArdle myopathy (GSD type V) is much more common than Tarui’s disease (GSD type VII),
- atypical pictures are not uncommon in both of these glycogenoses,
- the diagnosis is ultimately based on the genetic study of the two genes involved, PYGM and PFKM,
- appropriate dietary measures should be encouraged,
- questions remain about the clinical signs sometimes reported in heterozygous people and about possible associated brain damage.
