What is Tay-Sachs disease?
The Tay-Sachs disease it is a disorder that characterizes by presenting few cases in the world, it is transmitted from parents to children.
It is caused by the absence of an enzyme that is essential for the decomposition of fatty substances, this enzyme has the name of gangliosides. These build up in the brain at toxic levels and affect the function of the child's nerve cells.
As the disease evolves, the child suffering from the disease loses control of muscular movements. In the long term, this could generate paralysis, blindness and even death.
When a person has a history of having suffered the disease or have a large percentage of suffering it, they are recommended to perform genetic analysis if you plan to have children.
Causes of Tay-Sachs disease
In disease is caused by the low production of a protein that helps break down the chemical groups found in nerve tissue, this protein is called hexosaminidase A.
Without this protein, the chemicals found in the nervous system called gangliosides accumulate in cells, with frequencies in brain neurons.
This disease is caused by a defective gene on chromosome 15. When both parents are carriers of the defective gene, the heir has up to 25% chance of suffering from the disease.
In order for the child to have the disease, both parents have to be carriers of the defective gene.
On the other hand, when one of the two parents is the carrier of the gene, the child is called as a carrier, they will not suffer the symptoms of the disease, but they can transmit it to their own children.
Symptoms of Tay-Sachs disease
Commonly the symptoms of Tay-Sachs disease usually appear around 6 months of baby's life. The symptoms can be understood as the following:
- Decreased auditory and visual levels
- Red spots on the eyes
- Decrease in motor skills such as sitting, turning and crawling.
- Muscular weakness
- Disadvantages of movement
- Strange reactions when the baby hears noises
Treatment of Tay-Sachs disease
Some treatments can help control symptoms, since there is no specific cure for this disease. The treatments are the following:
Respiratory care: children suffering from Tay-Sachs disease they can suffer from infections in the lungs that cause breathing difficulties, and sometimes, the accumulation of mucus in the lungs.
Medications: there is a wide variety of medications that are prescribed to reduce the symptoms of the disease, the main drugs are anticonvulsants.
Feeding tube: patients who suffer from this disease, tend to have problems swallowing and breathing, when consuming food or liquids.
To prevent such problems, the doctor can recommend a feeding assistance device, as a gastrostomy tube. It is introduced from the nose and is directed towards the patient's stomach.
Physiotherapy: physiotherapy plays an important role in the child's recovery, since these helps maintain the flexibility of the joints and the ability to move naturally.