Laynie Dratch, Tanya M Bardakjian, Kelsey Johnson, Nareen Babaian, Pedro Gonzalez-Alegre, Lauren Elman, Colin Quinn, Michael H Guo, Steven S Scherer, Defne A Amado
Advances in gene-specific therapeutics for patients with neuromuscular disorders (NMDs) have brought increased attention to the importance of genetic diagnosis. Genetic testing practices vary among adult neuromuscular clinics, with multi-gene panel testing currently being the most common approach; follow-up testing using broad-based methods, such as exome or genome sequencing, is less consistently offered. Here, we use five case examples to illustrate the unique ability of broad-based testing to improve diagnostic yield, resulting in identification of SORD- neuropathy, HADHB -related disease, ATXN2 -ALS, MECP2 related progressive gait decline and spasticity, and DNMT1 -related cerebellar ataxia, deafness, narcolepsy, and hereditary sensory neuropathy type 1E...
February 2, 2024: Biology