Tay Sachs Disease Essay Topics
The first symptoms of Tay-Sachs disease may appear from infancy to adulthood, depending on how much beta-hexosaminidase A activity a person has (if any).
In the most common form, the infantile form, infants have no enzyme activity, or an extremely low level (less than %). They typically appear healthy in the newborn period, but develop symptoms within 3 to 6 months of age. The first symptom may be an exaggerated startle response to noise. Infants with this form begin to lose milestones such as rolling and sitting (regression) and develop muscle weakness, which gradually leads to paralysis. They also lose mental functions and become increasingly unresponsive to their surroundings. By 12 months of age, they begin to deteriorate more rapidly, developing blindness, that are hard to treat, and difficulty swallowing. Infants with this form of Tay-Sachs disease typically do not survive past 4 years of age. The most common cause of death is complications from lung inflammation (bronchopneumonia).
The juvenile form is less common and is characterized by having very little enzyme activity, typically less than 1% of normal activity. Depending on exactly how much activity there is, symptoms may begin any time during childhood, most commonly between ages 2 and 5. Children with this form often develop frequent infections, behavioral problems, and have more slowly progressive loss of movement control, speech, and mental function. They may also begin to have seizures and lose their vision. Children with the juvenile form often spend several years having no responsiveness or awareness before passing away in late childhood or adolescence. Infection is a common cause of death.
The late onset form, sometimes called the adult or chronic form, is also less common and is characterized by having less than 10% of normal enzyme activity. Symptoms and severity vary more among people with this form. Symptoms may begin in childhood to adulthood, but the disease is often not diagnosed until adolescence or adulthood. Neurological impairment is slowly progressive and may lead to clumsiness and loss of coordination, muscle weakness, tremors, difficulty speaking or swallowing, and uncontrollable muscle spasms and movements. Many people eventually need mobility assistance. In some people with this form, the first obvious symptom is a severe psychiatric disorder such as schizophrenia. Impaired intellect or may or may not develop. Some people with the late onset form have a shortened lifespan due to the disease, while others do not.
Last updated: 1/23/
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
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|80%% of people have these symptoms|
|Abnormality of movement|
Unusual movement[ more ]
|Cherry red spot of the macula|
Loss of developmental milestones
Mental deterioration in childhood[ more ]
Hearing defect[ more ]
|Increased muscle lipid content|
Fat accumulation in muscle fibers
Fat deposits in muscle fibers
Lipid accumulation in skeletal muscle
Skeletal muscle lipid accumulation[ more ]
Mental retardation, progressive
Progressive mental retardation[ more ]
Increased size of skull
Large head circumference[ more ]
|30%% of people have these symptoms|
|Recurrent respiratory infections|
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections[ more ]
Increased spleen size
|Percent of people who have these symptoms is not available through HPO|
Progressive dementia[ more ]
|Exaggerated startle response|
Decreased muscle tone
Low muscle tone[ more ]
Onset in first year of life
Onset in infancy[ more ]
|Poor head control|
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Last updated: 3/1/
Tay Sachs Disease
Tay-Sachs is a genetically inherited disease that which is terminal and incurable. A genetic disease is one which is obtained through hereditary; which basically means they are born with the disease. Tay Sachs is when the body is unable to produce an enzyme necessary for fat metabolism in the nerve cells.
Scientifically, Tay-Sachs disease is when harmful quantities of a fatty substance called ganglioside GM2 gather in the nerve cells of the brain. Infants with Tay-Sachs disease appear to develop normally for the first few months of life. Then, as nerve cells become swollen with fatty material, a persistent weakening of mental and physical abilities occurs. The child becomes blind, deaf, and unable to swallow. Muscles begin to deteriorate and paralysis sets in.
A much rarer form of the disease occurs in patients in their twenties and early thirties is characterized by shakiness and neurological decline. Patients with Tay-Sachs have a "cherry-red" spot in the back of their eyes. The condition is caused by deficient activity of an enzyme called Hexosaminidase A that catalyzes the biodegradation of acidic fatty materials known as Gangliosides. Gangliosides are made and biodegraded rapidly in early life as the brain develops. Patients and carriers of Tay-Sachs disease can be identified by a simple blood test that measures Hexosaminidase A activity. Both parents must be carriers in order to have an affected child. When both parents are found to carry a genetic mutation in Hexosaminidase A, there is a 25 percent chance with each pregnancy that the child will be affected with Tay-Sachs disease. Prenatal monitoring of pregnancies is available if desired. Presently there is no treatment for Tay-Sachs. Even with the best of care, children with Tay-Sachs disease usually die by age 5.
Tay-Sachs carriers are found most frequently among families of eastern European Jewish descent (Ashkenazi Jews). In the United States today, approximately one in every 27 Jews is a Tay-Sachs carrier.
Among Jews of Sephardic origin and in the general, non-Jewish population, the carrier rate is about one in There are certain exceptions. French-Canadian and the Cajun community of Louisiana have the same carrier rate as Ashkenazi Jews, one in Also, individuals with ancestry from Ireland are at increased risk for the Tay-Sachs gene. Current research indicates that among Irish Americans, the carrier rate is about one in
The only fight available against Tay Sachs is knowing if youre a carrier. The solution to that is an easy blood test. The Tay Sachs gene is passed from one generation to the next. Those who are coupled and are from either Jewish or Irish decent are urged to get tested. Otherwise, a presumed healthy baby may be the next victim of Tay Sachs.
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