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Diseases & Conditions
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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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