Diagnosing neuromuscular disorders: a case study of LGMD скачать в хорошем качестве

Diagnosing neuromuscular disorders: a case study of LGMD

Nicolas Dubuisson, MD, Cliniques universitaires Saint-Luc, Brussels, Belgium, outlines a case study which illustrates his stepwise approach to the diagnosis of neuromuscular disorders. At EAN 2024, Dr Dubuisson presented on the stages he runs through to narrow in on the diagnosis, from age of onset, localization of the issue, and family history, to more specific phenotypical and molecular testing. In this case, a 35-year-old male presents with proximal muscle weakness in the lower limbs, with no other medical history. His sister also had complaints of muscle weakness in the lower limbs suggesting an acquired disorder. The next step was to bring the sibling in for a clinical examination and ancillary testing. A genetic panel was conducted based on phenotypical classification to reach a diagnosis. This interview took place at the European Academy of Neurology (EAN) Annual Meeting 2024 in Helsinki, Finland. These works are owned by Magdalen Medical Publishing (MMP) and are protected by copyright laws and treaties around the world. All rights are reserved.