Validity of bioelectrical impedance to estimate fat-free mass in boys with Duchenne muscular dystrophy.

The evaluation of fat-free mass (FFM) in patients with Duchenne muscular dystrophy (DMD) is useful to investigate disease progression and therapeutic efficacy. This study aimed to validate the Bioelectrical impedance (BIA) method compared with the dual-energy X-ray absorptiometry (DXA) for estimating the %FFM in boys with DMD. This is a cross-sectional study performed with children and adolescents diagnosed with DMD.

Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease.

Pompe disease (PD) is a potentially lethal illness involving irreversible muscle damage resulting from glycogen storage in muscle fiber and activation of autophagic pathways. A promising therapeutic perspective for PD is enzyme replacement therapy (ERT) with the human recombinant enzyme acid alpha-glucosidase (Myozyme®). The need to organize a diagnostic flowchart, systematize clinical follow-up, and establish new therapeutic recommendations has become vital, as ERT ensures greater patient longevity.