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tay-sachs disease

Tay-Sachs disease is a fatal genetic lipid storage disorder in which harmful quantities of a fatty substance called ganglioside GM2 build up in tissues and nerve cells in the brain.  There are three (3) types of Tay-Sachs disease, categorized by the symptoms and the age when the symptoms first appear.  The most common type appears when the child is 3 to 6 months old - the disease progressing rapidly to death by age 4 or 5.  At birth, the infant appears healthy and develops normally for the first few months of life, but as the buildup of ganglioside GM2 begins to affect nerves, symptoms appear.  A rare from of Tay-Sachs – develops later in life – is due to low levels of the hex A enzyme, rather than the complete deficiency of hex A in the infantile form. Children with juvenile hex A deficiency develop symptoms between ages 2 and 5, and usually die by age 15. A milder form of hex A deficiency can develop anywhere from age 5 to the early 30s.


Symptoms may include:


  • Initially:
    • seizures
    • behavior changes, such as the infant stops smiling, crawling or rolling over and loses the ability to grasp or reach out
    • increased startle reaction
    • decreased eye contact
    • listlessness
    • increasing irritability
    • slow body growth with increasing head size
    • delayed mental and social skills
  • As the disease progresses:
    • feeding difficulties
    • abnormal body tone
    • loss of motor skills
    • blindness
    • deafness
    • loss of intellectual skills
    • slurred speech
    • unsteady gait
    • tremors mental illness

Causes may include:


  • insufficient activity of an enzyme called beta-hexosaminidase A – catalyst the breakdown of gangliosides

Treatment may include:


  • anticonvulsant medicine -  may initially control seizures

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Robert Wood Johnson University Hospital Hamilton Hamilton. Phone: 609-586-7900 Physician Referral: 609-584-5900.

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