Overcoming genetic neuromuscular diagnostic pitfalls in a middle-income country.

ABSTRACT: Neuromuscular disorders affect almost 20 million people worldwide. Advances in molecular diagnosis have provided valuable insights into neuromuscular disorders, allowing for improved standards of care and targeted therapeutic approaches. Despite this progress, access to genomic diagnosis remains scarce and inconsistent in middle-income countries such as Brazil. The lack of public health policies to enable feasible genetic diagnosis and the shortage of neuromuscular disorders specialists are the main reasons in this process. We report our experience in a transcontinental genomic consortium for neuromuscular disorders highlighting how collaborative efforts have helped overcome various obstacles in diagnosing our patients. We describe several challenging cases categorized into three major the

SUBMITTER: Frezatti RSS 

PROVIDER: S-EPMC11562110 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature