Tay-Sachs disease
Key points
- Tay-Sachs disease is a familial disorder found predominantly in Ashkenazi Jewish families that results in early death.
- Tay-Sachs disease is caused by a deficiency of hexosaminidase, an enzyme that is important in the metabolism of gangliosides (a type of chemical substance found in nerve tissue).
- There is no treatment for Tay-Sachs disease itself, only ways to make the patient more comfortable.
- The stress of illness can often be helped by joining support groups where members share common experiences and problems.
Definition
Tay-Sachs disease is a familial disorder found predominantly in Ashkenazi Jewish families that results in early death.
Causes, incidence, and risk factors
Tay-Sachs disease is caused by a deficiency of hexosaminidase, an enzyme that is important in the metabolism of gangliosides (a type of chemical substance found in nerve tissue).
These gangliosides, particularly ganglioside GM2, then accumulate in the brain, causing neurological deterioration. Tay-Sachs disease is inherited as a recessive gene, and 1 in 25 members of the Ashkenazi Jewish population carries the gene.
Tay-Sachs has been classified into infantile, juvenile, and adult forms, depending on the type of symptoms and when they first appear. The majority of people with Tay-Sachs have infantile forms.
Symptoms generally begin to appear when the child is 3 to 6 months old. The disease tends to progress rapidly, and the child usually dies by the age of 4 or 5 years.
Symptoms
- Loss of motor skills
- Increased startle reaction
- Decreased eye contact, blindness
- Deafness
- Dementia
- Listlessness
- Irritability
- Seizures
- Paralysis
- Decreased muscle tone (loss of muscle strength)
- Muscle function loss
- Delayed mental and social skills
- Slow growth
Signs and tests
- Family history
- Physical examination
- Enzyme analysis of blood or body tissue for hexosaminidase levels
- Eye examination (reveals a cherry-red spot in the macula)
Treatment
There is no treatment for Tay-Sachs disease itself, only ways to make the patient more comfortable.
Support Groups
The stress of illness can often be helped by joining support groups where members share common experiences and problems. See Tay-Sachs - support group.
Expectations (prognosis)
Children affected with this disease have progressive symptoms and usually die by 4 to 5 years of age.
Written and revised by
Gerald Hurowitz, M.D.
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