What is Infantile Neuroaxonal Dystrophy

Infantile Neuroaxonal Dystrophy (INAD) is a rare and progressive genetic disorder that primarily affects infants and young children. It is characterized by the degeneration of nerve fibers in the brain and spinal cord, leading to severe neurological symptoms.

INAD is caused by mutations in the PLA2G6 gene, which is responsible for producing an enzyme involved in the breakdown of fats in cells. The specific genetic mutations disrupt the normal functioning of this enzyme, leading to the accumulation of abnormal substances within nerve cells.

The symptoms of INAD typically appear in the first two years of life and may include developmental delays, loss of previously acquired skills, muscle weakness, difficulty with coordination and balance, vision problems, and progressive intellectual and motor deterioration.

Unfortunately, there is currently no cure for INAD, and treatment focuses on managing symptoms and providing supportive care. Physical and occupational therapy, assistive devices, and medications may be used to alleviate some of the symptoms and improve quality of life.

INAD is a devastating condition that significantly impacts the affected child and their family. Ongoing research and support from medical professionals and organizations are crucial in understanding the disease better and developing potential therapies.