Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 Deletion.

Objective: Duchenne muscular dystrophy (DMD) exon 45-55 deletion (del45-55) has been postulated as a model that could treat up to 60% of DMD patients, but the associated clinical variability and complications require clarification. We aimed to understand the phenotypes and potential modifying factors of this dystrophinopathy subset.

Methods: This cross-sectional, multicenter cohort study applied clinical and functional evaluation.

Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease.

Background And Objectives: Steinert's disease or myotonic dystrophy type 1 (MD1), (OMIM 160900), is the most prevalent myopathy in adults. It is a multisystemic disorder with dysfunction of virtually all organs and tissues and a great phenotypical variability, which implies that it has to be addressed by different specialities with experience in the disease. The knowledge of the disease and its management has changed dramatically in recent years.

Effectiveness of teleassistance at improving quality of life in people with neuromuscular diseases.

Rare neuromuscular diseases (NDs) are a group of inherited or acquired neurological pathologies affecting the muscles and the nervous system. Their low prevalence and high geographical dispersion can cause isolation and difficulties in social interaction between affected equals. New technologies, such as videoconferencing, offer a complementary option for improving the health of this population.