Tay-Sachs disease is a condition that affects the nerve cells in the brain and spinal cord among patients who would comprise of infants, babies, teenage and even adults. For the case of babies and infants it is caused by lack of a particular enzyme called hexosaminidase A, this enzyme causes a fatty substance to be referred to as GM2 ganglioside to collect leading to Tay-Sachs symptoms such as muscles weakness. This disease is a genetic condition characterized for being progressive and the is no cure so far that has been identified with the treatment available so far aimed at supporting the patients getting by besides keeping the patient comfortable.
The most common form of Tay-Sachs disease is the Infantile form, which presents itself around six months of age, with symptoms such as reduced vision and an exaggerated startle response. Thereafter it eventually progresses to a gradual loss of skills and seizures by age two and early death, usually by the age of five from complications related to pneumonia.
Tay-Sachs diseases is known to affect people across racial and ethnic groups, with susceptibility into carrying a genetic change that is tied to Tay-Sachs disease. However, it is more much more common among people of Ashkenazi from Eastern Europe or from Jewish descent. Other populations with higher numbers of people carrying the disease-causing genetic change include:
- French Canadians.
- Cajuns (from Louisiana).
- Old Order Amish (in Pennsylvania).
- Those with Irish ancestry
Tay-Sachs disease has been grouped into the following:
- infantile Tay-Sachs disease is characterized by complete or almost complete lack of hexosaminidase A enzyme activity. Then the disorder progresses rapidly, resulting in significant cognitive and physical deterioration.
- juvenile Tay-Sachs disease disease can be anywhere between 2 and 10 years of age and one of the first signs is often clumsiness and incoordination. This occurs because affected children have issues controlling their body’s movements (ataxia). Children tend to experience a progressive loss of speech, life skills and intellectual abilities.
- late-onset Tay-Sachs disease may vary from the late teens to any time in adulthood. This variability may occur even within affected members of the same family. For example, in each family one person may have symptoms in their early 20s, while others reach into their 60s or 70s with relatively milder minor symptoms. The disorder progresses much slower than the infantile or juvenile forms of the disease.
So far there is no approved treatment for Tay-Sachs disease else the treatment available is focused on the individual symptom management. This treatment may require the coordinated efforts of a team of specialists. Because of the potential for feeding difficulties, infants suffering from this condition should be monitored for nutritional status and proper hydration.
The use of anticonvulsants may be considered to treat seizures in some people with Tay-Sachs disease, although it may not be effective in all people. It has been observed that types and frequency of seizures can change over time in some individuals which will require a change in medication type or dosage.
The use of genetic counselling is another possible recommendation that can be administered for affected individuals and their families. As a matter of facts psychosocial support is recommended for the entire patient family.
Prenatal diagnosis tests are being advocated to tests samples for traces of things such as chorionic villus sampling (placental sampling) and amniocentesis amniotic fluid sampling which diagnose Tay-Sachs in babies before they’re born.
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