What is Tay-Sachs Disease?
The classical form of TAY-SACHS disease (TSD) is a fatal,
recessive genetic disorder in children that causes progressive
destruction of the central nervous system.
When a person has Tay-Sachs disease, harmful quantities of a fatty
substance called ganglioside GM2 accumulate in the nerve cells in
the brain.
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 occur. The child becomes blind, deaf, and
unable to swallow. Muscles begin to atrophy and paralysis sets in.
Tay-Sachs is named after Warren Tay (1843-1927) and Bernard Sachs
(1858-1944). Warren Tay was a British ophthalmologist who in 1881
described a patient with a cherry-red spot on the retina of the
eye. Bernard Sachs was a New York neurologist whose work several
years later provided the first description of the cellular changes
in Tay-Sachs disease. Sachs also recognized the familial nature of
the disorder, and, by observing numerous cases, he noted that most
babies with Tay-Sachs disease were of eastern European Jewish
origin.
What causes Tay-Sachs?
Tay-Sachs disease is caused by the absence of a vital enzyme
called hexosaminidase A (Hex-A). Without Hex-A, a fatty substance
or lipid called GM2 ganglioside accumulates abnormally in cells,
especially in the nerve cells of the brain. This ongoing
accumulation causes progressive damage to the cells.
The destructive process begins in the fetus early in pregnancy,
although the disease is not clinically apparent until the child is
several months old. By the time a child with Tay-Sachs disease is
three or four years old, the nervous system is so badly affected
that life itself cannot be supported. Even with the best of care,
all children with classical Tay-Sachs disease die early in
childhood, usually by the age of five.
A baby with Tay-Sachs disease appears normal at birth and seems to
develop normally until about six months of age. The first signs of
TSD can vary and are evident at different ages in affected
children. Initially, development slows, there is a loss of
peripheral vision, and the child exhibits an abnormal startle
response.
By about two years of age, most children experience recurrent
seizures and diminishing mental function. The infant gradually
regresses, losing skills one by one, and is eventually unable to
crawl, turn over, sit, or reach out. Other symptoms include
increasing loss of coordination, progressive inability to swallow
and breathing difficulties. Eventually, the child becomes blind,
mentally retarded, paralyzed, and non-responsive to his or her
environment.
Symptoms
*Deafness
*Decreased eye contact, blindness
* Decreased muscle tone (loss of muscle strength)
*Delayed mental and social skills
* Dementia
*Increased startle reaction
* Irritability
* Listlessness
* Loss of motor skills
* Paralysis or loss of muscle function
* Seizures
* Slow growth
Signs and tests
If Tay-Sachs disease is suspected, the doctor will perform
aphysical examination and take a family history. Additional tests
may include:
*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 may be eased by joining support groups whose
members share common experiences and problems. See Tay-Sachs -
support group.
Expectations (prognosis)
Children with this disease have symptoms that get worse over time.
They usually die by age 4 or 5.
Complications
Symptoms appear during the first 3 to 10 months of life and
progress to spasticity, seizures, and loss of all voluntary
movements.
Calling your health care provider
Go to the emergency room or call the local emergency number (such
as 911) if your child has a seizure of unknown cause, if the
seizure is different from 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.
Prevention
There is no known way to prevent this disorder. Genetic testing
can detect if you are a carrier of the gene for this disorder. If
you or your partner are from an at-risk population, it is
recommended that you undergo testing before starting a family.
Testing the amniotic fluid can diagnose Tay-Sachs disease in the
womb.
Can Tay-Sachs be cured?
Currently, there is no cure or effective treatment for Tay-Sachs.
How is Tay-Sachs Disease transmitted?
Tay Sachs is transmitted through hereditary genes from parents to
offspring. The Tay-Sachs genes are located on chromosome 15; these
are the genes that code for the enzyme Hex-A. In order for a
person to develop Tay-Sachs, they must receive defective Hex-A
genes from both parents. If they receive a defective gene from
only one parent, they will not develop the disease but will be a
carrier of the disease.
What is the prognosis?
Most children with Tay-Sachs disease usually die before reaching
age 5.
High occurrences of Tay-Sachs
Tay-Sachs occurs significantly high in persons of eastern European
(Ashkenazi) Jewish descent. About one in every 27 Jews in the
United States is a carrier of the Tay Sachs' gene.
Growing Stronger, Growing
Better
Global Health
Healthcare Provider
Tay-Sachs disease - treatment of Tay-Sachs
disease, Tay-Sachs disease types, Disease medicines, Tay-Sachs disease
symptoms, Tay-Sachs disease and Disease symptoms, Tay-Sachs disease symptoms
Disease and diagnosis, Symptoms and Solutions, Signs and Symptoms, type of
Tay-Sachs disease, cause common, common Tay-Sachs disease, Tay-Sachs disease
List, causes list, Infectious Tay-Sachs disease, Causes, Diseases , Types,
Prevention, Treatment and Facts, Tay-Sachs disease information, Tay-Sachs
disease: Definition, Tay-Sachs disease names, medical Tay-Sachs disease,
medical Tay-Sachs disease and disorders, cell Tay-Sachs disease, Tay-Sachs
disease Worldwide, Tay-Sachs disease Research, Tay-Sachs disease Control,
Tay-Sachs disease Center, Digestive Tay-Sachs disease Week, Information
about Tay-Sachs disease, causes of different Tay-Sachs disease, Tay-Sachs
disease Articles, Tay-Sachs disease and conditions, Health and Tay-Sachs
disease, Tay-Sachs disease Patients, Tay-Sachs disease and Sciences, causes
of alzheimer's Tay-Sachs disease, Tay-Sachs disease causes, alternative
medicine heart Tay-Sachs disease, body ailments, Tay-Sachs disease
medicines, medical antiques, type of blood Tay-Sachs disease