Symptoms and Treatment

"Cherry-red spot" on retina

Symptoms

There is no current cure for Tay-Sachs disease, however many ways of potentially finding a cure may exist.

Gene therapy

Gene therapy is a non-invasive way of potentially curing genetic diseases. It essentially is altering/adding the missing or damaged genetic code. The most popular way of doing this is via a genetically altered virus. This virus is non-disease causing and can insert, alter or even remove targeted genes. However, it is highly experimental, and is only for diseases that have no cure for now.

Stem cell therapy

Stem cell therapy is much more invasive, as it requires cells to be physically inserted into the body. The stem cells are genetically altered to produce the missing enzyme, which goes to the brain. The downside is that there are many risks to this treatment. There is a chance that the body will reject the cells, much like the fact that a donor’s heart may be rejected by the body, and the stem cells may also carry other diseases. Also, the source of the stem cells may be an issue, as they are usually derived from human bodies.

--For infantile Tay-Sachs disease--

Symptoms/complications usually start appearing at 3-5 months of age, and include:

Muscle weakness
Lack of awareness of surrounding
Poor/deteriorating vision
“Cherry-red spot” on retina
Greater reaction to being startled
Gradually becoming paralyzed
Listlessness

Later-stage symptoms and complications include:

Seizures
Blindness
Completely paralyzed
Poor mental function
Spasticity
Unable to swallow
Deafness
Confusion/disorientation
Dementia

Nearly all cases of infantile Tay-Sachs disease result in death during early childhood.

--For late-onset Tay-Sachs disease--

Symptoms/complications include:

Clumsiness
Mood alterations
Weakness in muscles
Tremors
Twitching
Slurred/Incoherent speech
Inability to coordinate muscle movements
Dystonia (body forcing someone into awkward positions)

Later on, people with Tay-Sachs disorder may experience walking, running, or moving. Some may go through mental problems, such as forgetfulness, mental deterioration, and behaviour problems. Approximately 40% eventually develop depression or psychosis.

Treatment

Anti-convulsant medicine may help with the initial seizures, but there is currently no treatment for infantile Tay-Sachs disorder. The only thing that can be done is to make them as comfortable as possible, using methods such as physiotherapy, to help sustain their mobility for as long as possible. A feeding tube may also be provided when the child is no longer capable of chewing or swallowing it's food.

Research Outlook

Top 2 pictures: Regular brain MRI's

Bottom 3 pictures: Tay-Sachs Disease brain MRI's

Nutritious* food for tube-fed people! (Introduced only last year) *(well they can't taste anything so it technically can't be called delicious)

Gene Therapy

Top: An example of dystonia

Random Fact #007

Tay-Sachs disease has the same chance to be in both males and females. However, it occurs more frequently in Ashkenazic Jews from Eastern/Central Europe. The chance for them to be a carrier of Tay-Sachs is 1 in 25-30. Jews usually have 1 in 3900 babies testing positive for Tay-Sachs. Italians, Irish Catholics, and French Canadians have reported the disease. In general, about one in 112 000 births are affected. Fewer than 100 cases of late-onset Tay-Sachs disorder have been reported, as it is hard to diagnose and can often be confused with other diseases and disorders.