Maladia tay-sachs

What is Tay-Sachs disease?

Tay-Sachs disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in
the brain and spinal cord.

The most common form of Tay-Sachs disease becomes apparent in infancy. Infants with this
disorder typically appear normal until the age of 3 to 6 months, when their development slows
and muscles used for movement weaken. Affected infants lose motor skills such as turning over,
sitting, and crawling. They also develop an exaggerated startle reaction to loud noises. As the
disease progresses, children with Tay-Sachs disease experience seizures, vision and hearing loss,
intellectual disability, and paralysis. An eye abnormality called a cherry-red spot, which can be
identified with an eye examination, is characteristic of this disorder. Children with this severe
infantile form of Tay-Sachs disease usually live only into early childhood.

Other forms of Tay-Sachs disease are very rare. Signs and symptoms can appear in childhood,
adolescence, or adulthood and are usually milder than those seen with the infantile form.
Characteristic features include muscle weakness, loss of muscle coordination (ataxia) and other
problems with movement, speech problems, and mental illness. These signs and symptoms vary
widely among people with late-onset forms of Tay-Sachs disease.

How common is Tay-Sachs disease?

Tay-Sachs disease is very rare in the general population. The genetic mutations that cause this
disease are more common in people of Ashkenazi (eastern and central European) Jewish heritage
than in those with other backgrounds. The mutations responsible for this disease are also more
common in certain French-Canadian communities of Quebec, the Old Order Amish community
in Pennsylvania, and the Cajun population of Louisiana.

What genes are related to Tay-Sachs disease?

Mutations in the HEXA gene cause Tay-Sachs disease. The HEXA gene provides instructions
for making part of an enzyme called beta-hexosaminidase A, which plays a critical role in the
brain and spinal cord. This enzyme is located in lysosomes, which are structures in cells that
break down toxic substances and act as recycling centers. Within lysosomes, beta-
hexosaminidase A helps break down a fatty substance called GM2 ganglioside.

Mutations in the HEXA gene disrupt the activity of beta-hexosaminidase A, which prevents the
enzyme from breaking down GM2 ganglioside. As a result, this substance accumulates to toxic
levels, particularly in neurons in the brain and spinal cord. Progressive damage caused by the
buildup of GM2 ganglioside leads to the destruction of these neurons, which causes the signs and
symptoms of Tay-Sachs disease.
Because Tay-Sachs disease impairs the function of a lysosomal enzyme and involves the buildup
of GM2 ganglioside, this condition is sometimes referred to as a lysosomal storage disorder or a
GM2-gangliosidosis.

Read more about the HEXA gene.

How do people inherit Tay-Sachs disease?

This condition is inherited in an autosomal recessive pattern, which means both copies of the
gene in each cell have mutations. The parents of an individual with an autosomal recessive
condition each carry one copy of the mutated gene, but they typically do not show signs and
symptoms of the condition.

ghr.nlm.nih.gov/condition=taysachsdisease

Tay Sachs disease Information

Tay-Sachs disease is a condition that mostly affects children wherein the genetic lipid storage is
affected with fatty substances such as ganglioside. This fatal disease is also called as GM2
gangliodosis or Hexominidase A deficiency is and named after the physician who first saw the
red spots in the retina which is a symptom of this disease. His name is Warren Tay, an
ophthalmologist.

What is Tay Sachs Disease and How It Affects the Child

Basically, this disease is a genetic problem wherein a defective gene is copied by the child from
the parent’s DNA.  Usually, the child with this problem appears to be developing normally in the
first few months but after about 6 months, it gets worst. The because of the gangliosides
accumulating in the nerve cells of the brain, the nerve cells become distended with fatty
materials. The child then develops to be blind, deaf, or having dysphagia.

In some cases, where it is rare, it affects patients in their twenties or thirties. During this stage,
the patient develops to have neurological problems and they have unsteady gait.

Tay-Sachs disease affects the Jews mostly. It affects about one in every twenty of Ashkanezi
Jeweish decents and death occurs one in 360, 00 0 newborns worldwide.

Types of  Tay Sachs disease

1. TYPE 1 GM2 gangliosidosis which is known as the classic infantile Tay-Sachs disease
2. TYPE e TIII GM2 also known as the juvenile sub acute TSD
3. THE B1 variant of GM2 gangliosidosis which is a late infantile acute to  chronic Tay-
Sachs disease
4. GM2 gangliodosis which is the chronic type of Tay-Sachs disease
Tay Sachs disease Causes
The absence of a gene that is called HEX A is what causes the Tay-Sachs disease. When a
person has no HEX A gene, there is an absence of metabolic pathway which is necessary to
avoid the deposition of fats in the nerve cells.

Tay Sachs disease  Symptoms and Signs

The symptoms for Tay Sachs disease will not appear until the child is at 3 to 6 months. In acute
phases, this includes:

 Seizures
 Decreased eye contact
 Listlessness
 Increased irritability
 Delayed mental and social skills
 Slow body growth but the head size is increased.
 Changing behaviors such as the infant doesn’t smile, crawl, or doesn’t roll over

When the problem progresses, these are the signs and symptoms

 Abnormal body tone

 Deafness
 Loss of intellectual skills
 Loss of motor skills
 Feeding problems

Tay-Sachs disease Diagnosis

In diagnosing a Tay-Sachs disease, physical examination is done where the ophthalmologist will
examine the eyes of the patient wherein “cherry-red” spot is seen at the back of the eyes.
Detailed family history and hereditary disorders are also checked by the physicians.

Aside from that, blood tests are taken to measure the HEX a or hexosaminidase A activity. This
is the main indicator if the child has the disease.

Tay-Sachs disease Treatment

Unfortunately, there are no treatments for Tay-Sachs disease. Anticonvulsants are given to
control seizure. Supportive or Palliative treatments are also given especially in nutrition and
hydration and ways to keep the airway open. Feeding tubes are attached to children since motor
skills are affected.
Tay-Sachs disease Prevention
There are multiple ways on assessing the possibility of having a Tay-Sachs disease

Screening

 Carrier testing- this is usually done by couple who are at risk for acquiring this problem.
This test aims to detect if an individual is carrying the copy of the genetic mutation.
 Prenatal testing- this test is done to know if the fetus has inherited the defective genes
from each parents.

Enzyme Essay Techniques – the test determines if the person has low HEX A.

Mutation Analysis Techniques – this technique is done where tissue samples are obtained by
using minimal invasive techniques. This technique screens many mutations however it can leave
a small possibility of both false positive and false negative results. Nonetheless, it can still help
in predicting the condition.

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