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Tay-Sachs disease Causes and Risks:
Tay-Sachs disease is caused by an deficiency of hexosaminidase, an exzyme that is important in the metabolism of gangliosides (a fatty acid). These fatty acids then accumulate in the brain causing neurological deterioration. Tay-Sachs disease is inherited as a recessive gene.
Symptoms begin to appear at 3 to 6 months old. Symptoms progress rapidly, and the child usually dies before 3 years old. Risk factors include having a Ashkenazi Jewish background. In this group, the incidence is 1 out of 2,500 people.
Prevention:
There is no known way to prevent this disorder.However, genetic testing can detect carriers of the gene for this disorder.Prenatal diagnosis is possible from amniotic fluid studies.
Symptoms:
Signs and Tests:
Treatment:
Only supportive treatment is available.
The stress of illness can often be helped by joining support groups where members share common experiences and problems. See Tay-Sachs - support group .
Prognosis:
Children affected with this disease have progressive symptoms and usually die by 3 years old.
Complications:
Note: Symptoms appear during the first 3 to 10 months of life and progress to loss of all voluntary movements, spasticity and seizures , and eventually death by 3 years old.
Call Your Healthcare Provider:
Go to the emergency room or call the local emergency number (such as 911) if this is the child's first seizure , if the seizure is different than other previous seizures , if the child has difficulty breathing , or if the seizure lasts longer than 2-3 minutes.
Call for an appointment with your health care provider if your child experiences a seizure lasting less than 2-3 minutes or has other noticeable behavioral changes.
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