Tay-Sachs disease
Tay-Sachs syndrome is a rare genetic disorder that is passed on from parent to child. It is caused by a lack of an enzyme that helps break down fatty substances. These fatty substances, called gangliosides, build up to toxic levels in the brain and spinal cord and affect the function of nerve cells. In the most common and severe form of Tay-Sachs disease, signs and symptoms begin to appear around 3 to 6 months of age. As the disease a progress, growth slows down and muscles begin to weaken. Over time, this can lead to seizures, hallucinations, paralysis, and other serious problems. Children with this form of Tay-Sachs usually live for only a few years. Often, some children have Tay-Sachs syndrome and may be living in their teens. Rarely, do some adults have Tay-Sachs syndrome which is usually more severe than the types that start in childhood. If you have a family history of Tay-Sachs disease or if you are a member of a high-risk group and are planning to have children, health care providers strongly recommend genetic testing and genetic counseling.
Symptoms: There
are three types of Tay-Sachs syndrome: infant, soldier, and early / adult. Infantile
form: With the
most common and severe form, called infantile form, the baby usually begins to
show signs and symptoms by about 3 to 6 months of age. Survival usually lasts
only a few years. Signs and symbols may include: Excessive panic when a baby hears loud noises, "cherry-red" spots on the eyes, loss of motor skills, including turning, crawling,
and sitting, Muscle weakness, progression to paralysis, movement problems, fainting, loss of vision and blindness, swallowing problems, loss of mental functions and lack of reaction in the
environment, increased head size (progressive macrocephaly).
Juvenile form: The
new strain of Tay-Sachs disease is less common. Symptoms and signs vary in size
and begin in childhood. Survival usually lasts through adolescence. Signs and
symbols may include: Behavioral problems, gradual loss of skills and movement control, frequent respiratory infections, loss of vision and speech loss, decreased mental function and reaction, and fainting. Last
onset/ adult form: This
is a rare and very difficult type with signs and symptoms that begin in late
childbearing age. The size of the symptoms varies greatly, and this form does
not always affect life expectancy. Signs and symptoms are progressive and may
include: Muscle
weakness, difficulty,
loss of communication, shivering and muscle spasms, loss of ability to walk, speech and swallowing problems, mental illness, and sometimes the loss of mental functioning.
When
to see a doctor? If you or your child has signs or
symptoms that might indicate Tay-Sachs' disease, or if you have concerns about
your child's growth, arrange a consultation with your healthcare provider.
Causes: Tay-Sachs
syndrome is a genetic disorder that is passed on from parents to children.
Occurs when a child inherits a defect (mutation) in the HEXA gene from both
parents. The
genetic mutation that causes Tay-Sachs disease results in a deficiency of the
enzyme beta-hexosaminidase A. This enzyme is needed to break down the fatty
substance GM2 ganglioside. The formation of fatty substances damages nerve
cells in the brain and spinal cord. The severity and early stages of the
disease depend on how much of the enzyme is still produced. Risk
factors: Because
genetic mutations that cause Tay-Sachs syndrome are more common in certain communities,
the risk factors for Tay-Sachs' disease include having ancestors from Eastern and Central European Jewish Communities
(Ashkenazi Jews), some French Canadian communities in Quebec, the Cajun community of Louisiana, old Order Amish community in Pennsylvania. Blood tests can be used to identify carriers of the
HEXA genetic mutation that causes Tay-Sachs disease. Genetic counseling is
recommended following testing.
Diagnosis: To
make sure your baby has Tay-Sachs syndrome, your healthcare provider will ask
about the symptoms and any family genetic problems, and have a physical exam.
Your child may need to consult a neurologist and an eye specialist for a
neurological examination and eye examination. Your healthcare provider may order the following
tests: A diagnostic blood test; a blood test checks the levels of
hexosaminidase A enzyme in the blood. Low or no levels of Tay-Sachs disease. Genetic
testing; this test
can test the HEXA gene to see if there are any mutations in Tay-Sachs' disease. Eye
examination; during
an eye examination, the health care provider may see a reddish-brown area
behind the eyes, which is a symptom of the disease. Prenatal
testing for
Tay-Sachs disease can be performed during pregnancy by removing a small piece
of the placenta (chorionic villi sampling) or by removing a small sample of
amniotic fluid near the baby (amniocentesis).
Treatment: There
is no cure for Tay-Sachs disease, nor are there any treatments that prove to be
slow to curb the progression of the disease. Other treatments can help control
the symptoms and prevent complications. The goal of treatment is support and
comfort. Supportive treatment includes: Medications; a large number of prescription drugs are
available to reduce symptoms and prevent complications: example,
anti-convulsive drugs or antibiotics. In respiratory care; the mucus accumulates in the normal lungs and
poses a high risk of lung infections causing respiratory problems. Chest
physiotherapy (CPT), exercise, and other methods can help remove mucus from the
lungs. Medications to reduce saliva production and placement are also options
for reducing the risk of mucus accumulation and preventing aspiration pneumonia. Nutrition
and hydration; your
baby may have difficulty swallowing or have trouble breathing through inhaling
food or fluid from the lungs while eating. To prevent such problems, your
doctor may recommend a support device such as a feed tube. A breastfeeding tube
may be inserted through your baby's nose and abdomen, or your surgeon may
operate on a gastrostomy tube directly. Physical
therapy; as the
disease progresses, your child may benefit from physical therapy to help keep
the joints flexible and to maintain as much movement (range of motion) as
possible. Physical therapy may delay joint stiffness and reduce or even delay
the loss of function and pain that may result from the affected muscles. In
occupational therapy; these
therapists can recommend activities and support devices to help with daily
functioning. Speech and language therapy; speech and language therapists can help with
swallowing problems.
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