Tay-Sachs disease: Symptoms & Signs, Diagnosis & Tests

Symptoms & Signs

  • Deafness
  • Decreased eye contact, blindness
  • Decreased muscle tone (loss of muscle strength)
  • Delayed mental and social skills
  • Dementia
  • Increased startle reaction
  • Irritability
  • Listlessness
  • Loss of motor skills
  • Paralysis or loss of muscle function
  • Seizures
  • Slow growth

Diagnosis & Tests

If Tay-Sachs disease is suspected, the doctor will perform aphysical examination and take a family history. Additional tests may include:

  • Enzyme analysis of blood or body tissue for hexosaminidase levels
  • Eye examination (reveals a cherry-red spot in the macula)

Review Date : 10/21/2008
Reviewed By : Luc Jasmin, MD, PhD, Departments of Anatomy and Neurological Surgery, University of California, San Francisco, CA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc..

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