What Is Tay-Sachs Disease?
Tay-Sachs disease a rare disorder pass from parents to the child. It causes by the absence of an enzyme that assistances break down fatty substances.
These fatty substances, called gangliosides, shape up to toxic levels in the child’s brain and affect the nerve cells’ function. As the illness progresses, the child loses muscle switch. Eventually, this leads to sightlessness, paralysis, and death.
If you have a domestic history of Tay-Sachs disease or if you’re an associate of a high-risk group and plan to have children, doctors strongly recommend genetic testing and genetic counseling.
What are the Symptoms of Tay-Sachs Disease?
In the most common form, an infant usually begins showing symptoms by about six months of age. Signs and symptoms of Tay-Sachs disease can contain the following:
- Loss of motor skills, with turning over, crawling, and sitting up;
- Exaggerated reactions when the baby hears loud noises;
- Vision and hearing loss;
- “Cherry-red” spots in the eyes;
- Muscle weakness;
- Movement difficulties.
Causes of Tay-Sachs Disease
It is a genetic disorder that passes from parents to their children. It happens when a child inherits the gene from both parents.
Risk Factors of Tay-Sachs Disease
Risk factors for Tay-Sachs disease include consuming families from:
- Eastern and Chief European Jewish communities (Ashkenazi Jews);
- Individual French Canadian communities in Quebec;
- Old Order Amish community in Pennsylvania;
- Cajun community of Louisiana.
Diagnosis of Tay-Sachs Disease
To settle that your baby has Tay-Sachs disease, your doctor will ask you about the child’s symptoms and any hereditary family disorders and order a diagnostic blood test.
The blood test forms the levels of an enzyme called hexosaminidase in the child’s blood. The classes are low or inattentive in it.
While performing a cautious eye exam of your child, the doctor may get a cherry-red spot in the child’s eyes, which is a sign of the disease. You may want to see a pediatric neurologist and an ophthalmologist for the nervous system and eye examinations.
What are the Treatments of Tay-Sachs Disease?
There is no treatment for Tay-Sachs disease, but some treatments can assist in managing symptoms. The goal of action is care and comfort. Supportive treatments include:
- It decreases your child’s symptoms, some prescription medications are available, counting anti-seizure pills.
2. Respiratory Care
- Children who take it are in great danger of lung infections that cause breathing problems and frequently accumulate mucus in their lungs.
- Your child may want the mucus using chest physiotherapy (CPT) to help remove mucus from the lungs.
3. Feeding Tubes
- Your child may have trouble swallowing or grow respiratory problems by inhaling food or fluid into the lungs while eating.
- It prevents those problems; your medic may recommend an assistive feeding device such as a gastrostomy tube inserted over your child’s nose and goes to your child’s stomach.
- Or, a doctor trained in stomach surgery might surgically insert an esophagogastrostomy tube.
4. Physical Therapy
- As the disease develops, your child may profit from physical therapy to help keep joints flexible and maintain as much ability to move (range of motion) as possible.
- Physical therapy can cause postponement of joint stiffness and reduce or delay the loss of function and pain resulting from shortened muscles.
5. Potential Future Treatments
- Gene therapy or enzyme replacement therapy study may eventually lead to a cure or treatment to slow Tay-Sachs disease progression.
When to See a Doctor
If your child has slightly of the signs or indications listed above, schedule an appointment with your child’s doctor.
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Because Tay-Sachs is inherited, there is no way to prevent it except through screening. Before preliminary a family, both parents can under genetic testing to see if they’re transporters of the disease.
Screening for Tay-Sachs carriers started in the 1970s and has reduced the number of Ashkenazi Jews born with Tay-Sachs in the United States and Canada by over 90 percent.
Speak with a genetic therapist if you’re thinking about starting a family and you or your partner believe you might be carriers of Tay-Sachs disease.