Neuroaxonal dystrophy type 1 (NAD1)

Neuroaxonal dystrophy type 1 (NAD1) is a rare genetic disorder affecting the nervous system. It involves abnormal buildup of structures called neuroaxonal spheroids within nerve cells, leading to progressive degeneration of the brain and spinal cord. This results in symptoms such as muscle weakness, loss of coordination, vision problems, and developmental delays. NAD1 typically starts in childhood or infancy and worsens over time. It is caused by specific gene mutations that impair the normal function of nerve cells, disrupting communication and leading to the neurological decline characteristic of the disease.