Background Pompe disease is an autosomal recessive disorder caused by deficiency of the
lysosomal glycogen-hydrolyzing enzyme acid α-glucosidase (GAA). The adult-onset form …

Background Magnetic resonance imaging (MRI) is the dominant 3D imaging modality to
quantify muscle properties in skeletal muscle disorders, in inherited and acquired muscle …

Background and objective Dysferlinopathies are a group of muscle disorders caused by
mutations in the DYSF gene. Previous muscle imaging studies describe a selective pattern …

Muscle MRI has become a very useful tool in the diagnosis and follow-up of patients with
muscle dystrophies. Muscle MRI provides us about many aspects of the structure and …

Background Due partly to physicians' unawareness, many adults with Pompe disease are
diagnosed with great delay. Besides, it is not well known which factors influence the rate of …

A paediatric and adult whole-body MRI (WB-MRI) protocol using a 1.5-T MRI system was
used to examine 117 individuals (106 patients, 11 asymptomatic relatives). Genetic …

Pompe disease is due to mutations in the gene encoding the lysosomal enzyme acid α-
glucosidase (GAA). Absence of functional GAA typically results in cardiorespiratory failure in …

Objective Therapeutic perspectives have brought attention to the development of
instruments to accurately evaluate the degree of pathology in patients with …

First, it is outlined in which subtypes of NMD respiratory muscle dysfunction is particularly
relevant. Second, new developments regarding diagnostic procedures, including respiratory …

The TREAT-NMD workshop on pattern recognition by magnetic resonance imaging (MRI) of
skeletal muscle is one in a series of workshops that have been organised by TREAT-NMD to …