Neuromuscular and Musculoskeletal Disorders

These genes are critical for brain development, cellular waste management in neurons, or protecting the central nervous system. FMR1 (Fragile X messenger ribonucleoprotein 1): Causes Fragile X Syndrome, the most common inherited form of intellectual disability and autism spectrum disorder. HEXA (Hexosaminidase A): Leads to Tay-Sachs Disease, a fatal lysosomal storage disorder causing progressive neurological degeneration. GALC (Galactosylceramidase): Causes Krabbe Disease, a severe leukodystrophy that destroys the protective myelin sheath surrounding nerve cells. EPM2A (Laforin glucan phosphatase): Responsible for Lafora Disease, a rare, fatal form of progressive myoclonus epilepsy.