Leading the Fight to treatand cure Tay-Sachs, Canavan and related diseases
First signs - A baby with Classic Infantile Gangliosidosis-1 (GM-1) 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 GM-1 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.
Babies affected by the infantile form of GM-1 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.
There is no treatment or cure for GM-1 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 GM-1.Recommendations for managing the symptoms appear in Infantile & Juvenile Support. Newly diagnosed families should read Finding Your Philosophy of Care, available through NTSAD. It will help parents develop a care plan and care goals to aid in major care choices.
National Tay-Sachs & Allied Diseases Association2001 Beacon StreetSuite 204Boston, MA 02135
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Biotechnology Info www.ncbi.nlm.nih.gov
At NTSAD, we are making a difference. Every day. Helping families and individuals find their way and providing hope by supporting research on many levels. All of this takes compassion and determination.
There is no time to waste, and families need our help. Those who are fighting today and those who will seek our help tomorrow.
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