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About Late Onset Tay-Sachs
Most people have heard of Tay-Sachs disease, a genetic and fatal disease of babies born to parents of predominately Ashkenazi Jews. There have been many misconceptions about this disease. Although it predominantly affects Jewish families, there is a large proportion of those afflicted that are from many other ethnicities and races (See Carriers and Statistics section for details). The belief was that this disease only occurred in infants and very young children. Now we know differently.

Late Onset Tay-Sachs is caused by the deficiency of the same enzyme Hexosaminidase A, (Hex A) that is totally lacking in the infantile form. There is about 5-15% residual enzyme activity in late onset Tay-Sachs, whereas the enzyme activity is nearly completely absent in the infantile form of Tay-Sachs. Absence of the hex A enzyme leads to an accumulation of the fat (lipid) GM2 ganglioside in the nerve cells which affects the functioning of the nervous system. The relatively increased amount of enzyme activity in infantile Tay-Sachs leads to a slower accumulation of GM2 ganglioside. This in turn causes a slower progression of neurological symptoms than those seen in the “classic” Tay-Sachs. The blood test that is available for diagnosing Tay-Sachs will reveal the presense of either form of the disease.

The first cases of Late Onset Tay-Sachs (LOTS) were detected in the mid-1970’s. The beginning symptoms of Late Onset Tay-Sachs are usually apparent between adolescence and the mid-30’s. However, subtle neurological symptoms may be realized as early as childhood. Precise determination of age of onset is difficult because the disorder is slowly progressive. Some subtle signs may include clumsiness, tremors, falls, speech impairment, abnormal behaviors, or mood alterations.

Since Late Onset Tay-Sachs has been newly recognized as a variant of Tay-Sachs, it can present with a variety of different clinical pictures. It is often misdiagnosed as other muscular, neurological and psychiatric disorders. Some of the misdiagnoses include: muscular dystrophy, Kugelberg-Welander, multiple sclerosis, Friedreich ataxia, Lou Gehrig’s disease or hebephrenic schizophrenia (depending on which symptoms are manifested).

The symptoms and severity of Late Onset Tay-Sachs are variable even among affected members of the same family. The neurological manifestations can include: proximal muscle weakness, muscle cramping especially in the legs at night, muscle wasting, lack of coordination, unsteady gait, hand tremors, dysarthria (slurred speech), and dystonia (muscle contractions causing distortion of posture),and swallowing difficulties. The symptoms listed can cause increased difficulty rising from a sitting position and frequent falls. Walking up or down stairs, running and jumping can become difficult or impossible. With advancing age, supportive devices, such as braces and walkers and inevitably a wheel chair may become necessary.

Psychiatric issues are prevalent in about 40% of the cases of LOTS. They usually present as recurrent psychotic episodes (loss of contact with reality) or as depression which may be associated with psychotic features as well. Sometimes the psychiatric manifestations may be the first sign of the disease, but more often it may occur in conjuction with a neurodegenerative clinical presentation. And we continue to learn…

KCBS News Healthwatch Report on Late Onset Tay-Sachs KCBS News Healthwatch Report on Late Onset Tay-Sachs
The Late Onset Tay-Sachs Research and Education Foundation.
Educate and help people affected with this debilitating disease that strikes older children, teens and adults alike.
The world needs to know that Tay-Sachs affects others bedsides infants and very young children.
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