Neuromuscular and Musculoskeletal Disorders
Neurological and neurodevelopmental disorders can result from inherited genetic variants that affect brain development, nerve function, and cellular health. Genes such as FMR1, HEXA, GALC, and EPM2A are associated with conditions including Fragile X syndrome, Tay-Sachs disease, Krabbe disease, and Lafora disease. Genetic insights support early diagnosis, personalized care, and informed healthcare decisions.