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)
-
Tay-Sachs disease: Overview, Causes
-
Tay-Sachs disease: Symptoms & Signs, Diagnosis & Tests
-
Tay-Sachs disease: Treatment
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..
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only — they do not constitute endorsements of those other sites. © 1997- 2010 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.