Can genes influencing muscle function affect the therapeutic response to enzyme replacement therapy (ERT) in late-onset Type II Glycogenosis?

► GSDII is a chronic myopathy due to mutations in GAA gene. ► Wide clinical variations are observed also in patients sharing the same mutations. ► ERT is available for GSD II but a subgroup of patients has a poor response. ► Genetic polymorphisms influencing muscle structure could modulate response to ERT. ► We can trace a polygenic profile influencing treatment response.