What are the Signs of Tay-Sachs Disorder?

Tay-Sachs disorder (TSD) is a very rare genetic disorder that usually strikes infants, but may also claim older victims. There are no viable treatments or cures for the disorder at any stage, and infants or children that develop the condition typically do not survive more than a few years. Tay-Sachs disorder is usually not fatal to adults, but can lead to severely diminished mental and physical capacities. Understanding the symptoms of Tay-Sachs disorder can lead to an early diagnosis of the condition.

Infants that develop symptoms of Tay-Sachs disorder usually develop normally for the first three to six months after birth. The first signs may be an apparent regression in abilities; children who have learned to crawl may be suddenly unable to do so, for instance. Body growth may slow below normal, although sometimes the head may become enlarged. Mental skills stop developing, and some infants develop a pronounced listlessness. Seizures are another common symptom of TSD.

In the later stages of the disorder, abilities may lessen even farther, leading to problems with feeding and motor skills. Many young children with the disorder become blind and deaf, and may lose speech abilities. Death typically comes around age four or five.

Juvenile onset Tay-Sachs disorder generally appears in children that are between two and ten years old, and is more common in people of Ashkenazi Jewish descent. Symptoms are similar to those seen in infant forms of the condition, but tend to progress more slowly. Slurred speech and motor problems are common early symptoms. Muscular weakness and severe muscle cramps may also occur. The spectrum of symptoms for the disorder is quite wide; according to some experts, more that 70 distinct symptoms may exist that can indicate the condition. Children and adolescents who develop the disorder usually die within 10-15 years of symptom development.

In adults, the condition is usually not fatal, though there is little evidence that can explain why this is the case. Adults who develop Tay-Sachs disorder tend to suffer from significant loss of mental function, and may develop hallucinations, neurological problems, and lack of coordination. This condition is still little understood in adults, and life expectancy information is not widely agreed upon by experts.

This bleak disorder has long been the subject of medical research. Many doctors hope that advancements in genetic and enzyme therapy may help to provide a cure for the usually fatal disorder. Some hope that the answer lies in gene therapy, and that doctors will one day be able to replace the malfunctioning gene that causes the condition with a healthy one that will prevent symptoms from developing.