Gangliosidosis (GM-1) is an inherited Lysosomal storage disease that progressively destroys neurons (nerve cells) in the brain and spinal cord. The signs and symptoms of the most severe form of GM1 gangliosidosis, called Type I or the infantile form, usually become apparent by the age of six months. Affected infants typically appear normal until onset, but developmental regression (loss of acquired milestones) eventually occurs and muscles used for movement weaken. There is currently no effective medical treatment for GM1 gangliosidosis. Symptom management and supportive treatments often focus on nutrition, hydration and respiratory care. GM-1 has a shortened life expectancy. For more information, visit NTSAD.org.
Note: As science advances, we continue to experience a fast-evolving landscape of potential new therapies. The families portrayed here offer perspective on coping with rare and/or life-limiting conditions. They also each represent a particular moment in time.
If you are considering a clinical trial for your child, please also see the Courageous Parents Network Guided Pathway on Clinical Trials.