About tay syndrome
What is tay syndrome?
Trichothiodystrophy is a hereditary disorder characterized by brittle hair, which may be accompanied by a variety of other manifestations. It is sometimes called PIBIDS, a term that refers to the association of Photosensitivity Ichthyosis, Brittle hair, Intellectual impairment, Decreased fertility, and Short stature. Without photosensitivity the condition has been termed IBIDS, and without ichthyosis, BIDS. Many patients have recurrent infections, and abnormalities of the bone and teeth may also occur.
The defining feature of trichothiodystrophy is brittle hair, which is sulfur deficient and, when examined with a microscope and polarized light, demonstrates a characteristic light and dark (tiger tail) banding.
What are the symptoms for tay syndrome?
Brittle hair symptom was found in the tay syndrome condition
Infantile Tay-Sachs is the most common form. There are also juvenile and adult forms of the disease, which occur less frequently.
The age of onset differs based on the amount of Hex-A enzyme activity. The less enzyme activity someone has, the earlier their symptoms will appear. With lower enzyme activity, symptoms are also more severe.
Symptoms of infantile Tay-Sachs
Most infants with Tay-Sachs disease appear healthy at birth and for the first few months of life, with symptoms usually appearing from age 3 to 6 months. Progression is rapid, and a child with infantile Tay-Sachs may live to age 4 or 5.
Symptoms of infantile Tay-Sachs include:
- muscle weakness
- muscle twitching
- increased startle response
- declining motor skills
- slow growth
- hearing loss
- vision loss
- difficulty swallowing
- paralysis
- seizure
- intellectual disability
- red spot on the macula (an oval-shaped area near the center of the retina in the eye)
Emergency symptoms
If your child has a seizure or has trouble breathing, go to the emergency room or call your local emergency services immediately.
Symptoms of juvenile Tay-Sachs
People with the juvenile form typically display symptoms between ages 2 and 5. Symptoms slowly increase over time. Children with this form may live to about age 15.
Symptoms can include:
- uncoordinated movement, known as ataxia
- muscle weakness
- mood and cognitive symptoms
- difficulty with speech
- vision loss
- seizure
- decreased responsiveness
Symptoms of adult Tay-Sachs
Adult Tay-Sachs, sometimes known as chronic or late onset Tay-Sachs, is the mildest form. Symptoms appear during adolescence or adulthood. People with the adult form of Tay-Sachs disease usually have symptoms such as:
- Muscle Weakness and atrophy
- slurred speech
- unsteady gait
- tremors
Some people experience Dementia or psychiatric conditions such as schizophrenia.
The severity of symptoms and life expectancy varies. Medications and other supports, such as physical therapy and occupational therapy, can help make symptoms more manageable.
What are the causes for tay syndrome?
Tay-Sachs disease is hereditary, which means it’s passed down through families. A child has to receive two copies of the gene that causes Tay-Sachs — one from each biological parent — to inherit the disease.
People with two copies of the problem gene have trouble producing an enzyme called hexosaminidase A (Hex-A).
Without this enzyme, a lipid called GM2 ganglioside builds up in nerve cells in the brain, destroying these cells.
If only one parent passes down the affected gene, the child becomes a carrier. They won’t develop the disease, but they may pass it to their own children.
What are the treatments for tay syndrome?
At present, there’s no cure for Tay-Sachs disease. Typically, treatment is supportive, focused on reducing symptoms and improving quality of life. This is also known as palliative care.
Treatments may include:
- medication for pain
- anti-epileptic medication to control seizures
- physical therapy
- nutritional support
- respiratory treatment
Emotional support for the family is also important. Seeking out support groups can help you cope.
It’s normal to experience a range of emotions when caring for a child with a serious disease. Talking with other families managing the same disease can be comforting.
What are the risk factors for tay syndrome?
The gene that causes Tay-Sachs is most common among Ashkenazi Jews, whose families descend from Jewish communities in Central or Eastern Europe. According to the Center for Jewish Genetics, approximately 1 in 30 people in the Ashkenazi Jewish population is a Tay-Sachs carrier.
You’re also more likely to be a carrier if someone in your family had Tay-Sachs. This is true for people of all ethnicities and racial groups.
There’s no way to prevent the disease, but you can undergo genetic counselling and testing to see if you’re a carrier.
If you or your partner is a carrier, genetic testing can help you decide whether or not to have biological children.
Is there a cure/medications for tay syndrome?
Research is ongoing for more effective treatments for Tay-Sachs disease. Several options have shown some benefits in animals, but have had limited results in people. Potential treatments include:
- Enzyme replacement therapy. Since Tay-Sachs is caused by the lack of the Hex-A enzyme, this treatment seeks to replace the enzyme. So far, several complications have kept this from being effective for Tay-Sachs.
- Enzyme-enhancing therapy. This therapy uses molecules to stabilize enzymes and increase their activity. More research is needed on this treatment.
- Substrate reduction therapy. Instead of trying to increase the Hex-A enzyme, this uses small molecules to reduce the lipid buildup that damages nerve cells in people with Tay-Sachs.
- Gene therapy. Bringing new genetic information to cells may correct the enzyme defect that results in Tay-Sachs. The Food and Drug Administration (FDA) recently approved clinical trials to study the safety and effectiveness of gene therapy. It’s not yet known whether the new treatment will be effective and safe over time.
- Cell transplantation. This therapy uses bone marrow transplants to provide the missing enzyme. Studies have found benefits for animals, but more research is needed in humans.