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What are symptoms of Tay-Sachs disease?

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Tay-Sachs is a rare inherited disorder. A baby born with Tay-Sachs grows normally until 3 to 6 months of age. Then, the baby’s growth might start to slow and the muscles weaken. The disease causes more symptoms over time, including:

By age 2, most children with Tay-Sachs have started getting more severe problems. They can include:

Many children with Tay-Sachs don’t live past age 5.

  • Trouble turning over, sitting, and crawling
  • Strong reaction to loud noises
  • Trouble focusing on objects or following them with their eyes
  • Cherry-red spots in the eyes, which can be checked with an eye exam
  • Swallowing and breathing issues that keep getting worse
  • Seizures
  • Loss of mental function, hearing, and sight
  • Paralysis

From: What is Tay-Sachs Disease? WebMD Medical Reference

SOURCES:

Mayo Clinic: “Tay-Sachs disease.”

National Human Genome Research Institute: “Learning About Tay-Sachs Disease.”

U.S. National Library of Medicine Genetics Home Reference: “Tay-Sachs Disease.”

National Tay-Sachs and Allied Diseases Association: “Classic Infantile Tay-Sachs,” “Symptom Management,” “Adult Onset Tay-Sachs.”

National Organization for Rare Diseases: “Tay Sachs Disease.”

Genetics in Medicine: “Late-onset Tay-Sachs disease: Phenotypic characterization and genotypic correlations in 21 affected patients.”

Cleveland Clinic Children’s: “Tay-Sachs.”

American College of Physicians, “Pulmonary Disease.”

Reviewed by Dan Brennan on October 16, 2018

SOURCES:

Mayo Clinic: “Tay-Sachs disease.”

National Human Genome Research Institute: “Learning About Tay-Sachs Disease.”

U.S. National Library of Medicine Genetics Home Reference: “Tay-Sachs Disease.”

National Tay-Sachs and Allied Diseases Association: “Classic Infantile Tay-Sachs,” “Symptom Management,” “Adult Onset Tay-Sachs.”

National Organization for Rare Diseases: “Tay Sachs Disease.”

Genetics in Medicine: “Late-onset Tay-Sachs disease: Phenotypic characterization and genotypic correlations in 21 affected patients.”

Cleveland Clinic Children’s: “Tay-Sachs.”

American College of Physicians, “Pulmonary Disease.”

Reviewed by Dan Brennan on October 16, 2018

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