Neuroaxonal dystrophy type 2 (NAD2)

Neuroaxonal dystrophy type 2 (NAD2) is a rare genetic neurological disorder characterized by the degeneration of nerve cells in the brain and spinal cord. It involves the buildup of abnormal structures called neuroaxonal spheroids within nerve fibers, disrupting communication between nerves. This condition typically manifests in early childhood with symptoms such as developmental delays, muscle weakness, loss of coordination, and vision problems. NAD2 is inherited in an autosomal recessive pattern, meaning a person must inherit two copies of the faulty gene to be affected. Currently, there is no cure, and management focuses on symptom support and improving quality of life.