Neuroaxonal dystrophy

Neuroaxonal dystrophy is a rare genetic disorder that affects the nervous system, particularly the neurons (nerve cells). It leads to the abnormal buildup of structures called axonal spheroids, which disrupt communication between nerve cells. Symptoms often include progressive motor difficulties, intellectual disabilities, and problems with vision or hearing. The condition usually begins in early childhood and worsens over time. While there is currently no cure, supportive treatments can help manage symptoms and improve quality of life. Its complexity can make diagnosis and treatment challenging, requiring care from specialists in neurology and genetics.