Symptoms of Tay-Sachs Disease
Infants with Tay-Sachs disease appear to develop normally for the first few months of life. Then, as nerve cells become distended with fatty material, a relentless deterioration of mental and physical abilities occurs. The child becomes blind, deaf, and unable to swallow. Muscles begin to atrophy, and paralysis sets in.
A much rarer form of the disorder occurs in patients in their 20s and early 30s, and is characterized by an unsteady gait and progressive neurological deterioration.
People with Tay-Sachs also have "cherry-red" spots in their eyes.
Diagnosing Tay-Sachs Disease
When
diagnosing Tay-Sachs disease, the doctor will ask a number of questions about symptoms and family history, perform a physical exam, and recommend certain tests, including a blood test.
Patients and carriers of Tay-Sachs disease can be identified by a simple blood test that measures HEXA activity. Prenatal diagnosis of Tay-Sachs disease is available if desired.
Treatment for Tay-Sachs Disease
There is no Tay-Sachs cure or way of slowing down the progression of Tay-Sachs disease. Therefore,
treatment for Tay-Sachs disease focuses on controlling the symptoms. Some of these treatments for Tay-Sachs disease may include:
- Medications
- Techniques to keep the airway open.
Treatment also focuses on lifestyle and care issues, including:
- Feeding
- Proper nutrition and hydration.
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