Pediatrics Virtual Tour

Tay-Sachs disease - Symptom

Symptoms:

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

Signs and 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)

Reviewed last on: 10/21/2008
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.

References

Johnston MV, Neurodegenerative Disorders of Childhood. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th Ed. Philadelphia, Pa: Saunders Elsevier; 2007: chap 599.

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Tay-Sachs disease - Symptom

Symptoms:

Signs and tests:

References