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Late-onset Tay-Sachs (LOTS) is a very rare genetic disease in which
fatty compounds, called gangliosides, do not break down normally because the
body produces too little of the enzyme hexosaminidase A (or hex A). Over time,
gangliosides build up in the brain and damage brain nerve cells. This affects a
person's mental functioning.
This condition is a recently discovered form of Tay-Sachs disease
and occurs most often in people of Ashkenazi Jewish descent. People of
French-Canadian or Cajun descent are also at a higher risk than the general
Symptoms of LOTS vary but usually include clumsiness or mood
changes that begin between adolescence and the mid-30s. At first, symptoms are
subtle and may go unnoticed. Other symptoms that may occur include:
Treatment for late-onset Tay-Sachs disease focuses on controlling
symptoms. There is no cure. The life expectancy for a person with LOTS is
unknown. Depending on the severity of the symptoms, the person may live as long
as someone who does not have the disease.
Current as of:
February 24, 2016
Sarah Marshall, MD - Family Medicine & Martin J. Gabica, MD - Family Medicine & Siobhan M. Dolan, MD, MPH - Reproductive Genetics
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