Ana Paula Cassetta dos Santos Nucera

Duchenne muscular dystrophy (DMD) is a muscular disease genetically linked to the DMD gene, which encodes dystrophin, a protein that is crucial for the integrity of skeletal muscle and myocytes. This condition follows an X-linked inheritance pattern. Female carriers are typically asymptomatic; however, they may develop cardiomyopathy, making screening for structural heart disease advisable. We conducted a cross-sectional study to assess the prevalence of subclinical left ventricular (LV) dysfunction, defined by reduced global longitudinal strain (GLS), in asymptomatic female [...] Abstract Duchenne muscular dystrophy (DMD) is a muscular disease genetically linked to the DMD gene, which encodes dystrophin, a protein that is crucial for the integrity of skeletal muscle and myocytes. This condition follows an X-linked inheritance pattern. Female carriers are typically asymptomatic; however, they may develop cardiomyopathy, making screening for structural heart disease advisable. We conducted a cross-sectional study to assess the prevalence of subclinical left ventricular (LV) dysfunction, defined by reduced global longitudinal strain (GLS), in asymptomatic female

Fabry disease (FD) is an X-linked lysosomal storage disorder characterized by reduced or absent activity of the enzyme α-galactosidase A. Due to systemic accumulation of glycolipids, FD phenotype is diverse, and diagnosis may be challenging. Clinical manifestations include small fiber neuropathy, renal dysfunction, cardiac involvement, cerebrovascular disease, among others. In the present study, we describe biopsy proven small fiber neuropathy and subclinical cardiac involvement in two cousins diagnosed with FD secondary to a recently described pathogenic variant, highlighting the importance of diagnostic tools to document organ damage and allow early treatment.

In the last few decades, there have been considerable improvements in the diagnosis and care of Duchenne muscular dystrophy (DMD), the most common childhood muscular dystrophy. International guidelines have been published and recently reviewed. A group of Brazilian experts has developed a standard of care based on a literature review with evidence-based graded recommendations in a two-part publication. Implementing best practice management has helped change the natural history of this chronic progressive disorder, in which the life expectancy for children of the male sex in the past used to be very limited. Since the previous publication, diagnosis, steroid treatment, rehabilitation, and systemic care have gained more significant insights with new original work in certain fields. Furthermore, the development of new drugs is ongoing, and some interventions have been approved for use in certain countries. Therefore, we have identified the need to review the previous care recommendations for Brazilian patients with DMD. Our objective was to create an evidence-based document that is an update on our previous consensus on those topics.

Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy in children, affecting approximately one in 3,500–5,000 liveborn boys. The main signs and symptoms include gait distu...

Quantitative electromyography is an important tool to evaluate myopathies, and some difficult-to-treat asthmatic patients may have a subclinical corticosteroid myopathic process, using only inhaled corticosteroid, according to some studies. In this report, diaphragm quantitative electromyography was used to evaluate asthmatic difficult-to-treat patients, comparing them with a control group. Significant differences were obtained in amplitude, duration and size index of motor unit action potentials, with lower parameters in the asthmatic patients, which may indicate a myopathic process.