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Tay-Sachs, Canavan, GM1 and Sandhoff diseases

GM1 Gangliosidosis-1 Infantile Symptoms

What are the symptoms of infantile GM1?

First signs - A baby with Classic Infantile GM1 gangliosidosis displays symptoms within the first 6 months.   Symptoms may be apparent at birth. Early symptoms include poor appetite, weak suck and failure to thrive. Only about 50% of cases display the cherry-red spot in the back of the eye.

Gradual Loss of skills - Infantile GM1 gangliosidosis children never learn to sit up or crawl, have generalized poor muscle strength, demonstrate progressive inability to swallow and have difficulty breathing.  Some children also have an enlarged heart, cardiomegaly.

By Age 2 and beyond - Most children experience recurrent seizures by age 1 and eventually lose muscle function, and mental function and sight, becoming mostly non-responsive to their environment.

How does an infant get diagnosed with GM1?

Babies affected by the infantile form of GM1 gangliosidosis are frequently diagnosed by the cherry-red spot on the retina of the eye.  Initially many parents notice developmental delays but pediatricians often dismiss these concerns by stating "every baby develops differently" and "the baby will catch up". Often at about 10-14 months of age, children may start to exhibit trouble tracking and/or focusing with their eyes, so parents schedule an appointment for an eye exam.   The cherry-red spot is quickly seen and an initial diagnosis of Tay-Sachs or similar devastating disease is made.

Diagnosis can also be made by a neurologist or geneticists and the completion of a metabolic evaluation.

How do I care for an infant having GM1?

There is no treatment or cure for GM1 gangliosidosis disease but there are ways to manage symptoms. These range from life-extending interventions like a feeding tube to comfort measures like massage to promote relaxation.

Respiratory health and seizure management are the two main symptom management challenges in Infantile GM1 gangliosidosis.

Recommendations for managing the symptoms appear in Infantile & Juvenile Support.

Newly diagnosed families should read Philosophy of Care, a framework of care goals and values to help you make the best choices for your child and family.

GM1 Family Information Packet

NTSAD offers a free information packet that includes materials on the following topics.

  • symptom management
  • research updates
  • how to cope

Request it today by completing our online request form: Contact Us.