Infantile Neuroaxonal Dystrophy (INAD) is a rare, inherited, neurodegenerative disorder that typically appears in early childhood, often between 6 months and 3 years of age. It is caused by changes in the PLA2G6 gene, which affect how nerve cells function and survive.
In children with INAD, nerve cells (neurons) develop abnormal swellings called spheroids, which disrupt communication in the brain and spinal cord. Over time, this leads to the gradual loss of skills such as walking, talking, and swallowing.
Inheritance: Autosomal recessive (both parents must carry the faulty gene).
Symptoms: Developmental regression, muscle weakness, vision problems, and difficulties with speech and swallowing.
Prevalence: Ultra-rare, affecting only a few hundred children worldwide.
Progression: Symptoms typically worsen over several years.
Current treatment: No cure. Care focuses on supportive therapies, with promising gene therapy research underway.
Early identification allows families to access therapies that maintain comfort, connect with support networks, and explore participation in clinical research.
PLA2G6 Gene
Mobility Loss
Speech Difficulty
Vision Problems
