In patients with late-onset Pompe disease (LOPD), the efficacy of the enzyme replacement
therapy (ERT) with recombinant human alpha-glucosidase (rhGAA) is difficult to evaluate …

Pompe disease is a genetic disorder produced by mutations in the GAA gene leading to
absence or reduced expression of acid alpha-glucosidase, an enzyme that metabolizes the …

Objectives Magnetic resonance imaging (MRI) constitutes a powerful outcome measure in
neuromuscular disorders, yet there is a broad diversity of approaches in data acquisition …

Background Natural history studies in neuromuscular disorders are vital to understand the
disease evolution and to find sensitive outcome measures. We performed a longitudinal …

Objective To identify the best quantitative fat–water MRI biomarker for disease progression
of leg muscles in Becker muscular dystrophy (BMD) by applying a stepwise approach based …

Pompe disease is characterized by a deficiency of acid alpha‐glucosidase that results in
muscle weakness and a variable degree of disability. There is an approved therapy based …

Pompe disease (PD) is an autosomal recessive disorder caused by mutations in the GAA
gene that lead to a deficiency in the acid alpha-glucosidase enzyme. Two clinical …

Background and Objectives Limb-girdle muscular dystrophy autosomal recessive type 12
(LGMDR12) is a rare hereditary muscular dystrophy for which outcome measures are …

Purpose of review The aims of this review are to discuss the imaging modalities used to
assess muscle changes in myopathies, to provide an overview of the inherited myopathies …

The latest results obtained from the study of long cohorts of patients with various
neuromuscular diseases open the door to the use of this technology in clinical trials, which …