You have to receive two copies of the defective gene — one from each parent — to inherit the disease. If only one parent passes down the defective gene, the child becomes a carrier. The disease is most common among Ashkenazi Jews, whose families descend from Jewish communities in Central or Eastern Europe.
If you or your spouse is a carrier, genetic testing can help you decide whether or not to have children. Prenatal tests , such as chorionic villus sampling CVS and amniocentesis, can diagnose Tay-Sachs disease. Genetic testing is generally done when one or both members of a couple are carriers of the disease.
CVS is performed between 10 and 13 weeks of pregnancy and involves taking a sample of cells from the placenta via the vagina or abdomen. Amniocentesis is done between 15 and 20 weeks of pregnancy. If a child is displaying symptoms of Tay-Sachs disease, a doctor can perform a physical examination and collect a family history. Typically, treatment is supportive, focused on reducing symptoms, and improving the quality of life for the patient and family. This is also known as palliative care.
Emotional support for the family is also important. Seeking out support groups can help you cope. Taking care of a sick child is emotionally challenging and talking with other families managing the same disease can be comforting.
Research is ongoing for more effective treatments for Tay-Sachs disease. Skeletal muscle lipid accumulation. Mental retardation, progressive. Progressive mental retardation. Increased size of skull. Large head. Large head circumference. Enlarged liver. Low or weak muscle tone. Frequent respiratory infections. Multiple respiratory infections. Susceptibility to respiratory infections. Involuntary muscle stiffness, contraction, or spasm. Increased spleen size.
Lack of feeling, emotion, interest. Dementia, progressive. Progressive dementia. Decreased muscle tone. Low muscle tone. Onset in first year of life. Onset in infancy. Do you have more information about symptoms of this disease? We want to hear from you. Do you have updated information on this disease? Cause Cause. 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. 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 seen in Tay-Sachs disease.
Inheritance Inheritance. Tay-Sachs disease is inherited in an autosomal recessive manner. There is nothing either parent can do, before or during a pregnancy, to cause a child to have Tay-Sachs disease. People with Tay-Sachs disease inherit one mutation from each of their parents. The parents, who each have one mutation, are known as carriers. Carriers of an autosomal recessive disease typically do not have any signs or symptoms they are "unaffected".
When 2 carriers of an autosomal recessive disease have children, each child has a: 1 in 4 chance to have the disease 1 in 2 chance to be an unaffected carrier like each parent 1 in 4 chance to be unaffected and not a carrier.
Diagnosis Diagnosis. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. Treatment Treatment. Currently, there is no cure for Tay-Sachs disease, and there is no treatment that stops or slows the progression of the disease.
Treatment aims to relieve some of the symptoms, manage infections, prevent complications, and increase quality of life as much as possible. Treatment for symptoms may include anticonvulsants to control seizures in children, and antipsychotic medications for psychiatric disorders in adults. Of note, tricyclic antidepressants are thought to be ineffective, and they may actually inhibit the little enzyme activity that may be present in some people with the disease.
Preventing complications involves getting adequate nutrition and hydration, preventing airway obstruction, and avoiding severe constipation with food additives, stool softeners, or laxatives. Find a Specialist Find a Specialist. Healthcare Resources To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. You can also learn more about genetic consultations from MedlinePlus Genetics. Research Research.
The goal of treatment is support and comfort. Supportive treatments include:. Respiratory care. Children who have Tay-Sachs disease are at high risk of lung infections that cause breathing problems and frequently accumulate mucus in their lungs.
Your child may need the mucus using chest physiotherapy CPT to help remove mucus from the lungs. Feeding tubes. Your child may have trouble swallowing, or develop respiratory problems by inhaling food or liquid into the lungs while eating.
To prevent those problems, your doctor may recommend an assistive feeding device such as a gastrostomy tube, which is inserted through your child's nose and goes to your child's stomach. Or, a doctor trained in stomach surgery may surgically insert an esophagogastrostomy tube. Physical therapy.
Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated. Updated visitor guidelines. You are here Home » Tay-Sachs Disease. Top of the page. Topic Overview What is Tay-Sachs disease? There are two forms of Tay-Sachs: The most common form develops soon after a baby is born.
It causes death early in childhood. Late-onset Tay-Sachs can start between puberty and the mids. How long a person lives depends on how severe the symptoms are. People may live as long as someone who doesn't have Tay-Sachs disease. Late-onset Tay-Sachs is very rare. What causes Tay-Sachs disease? Tay-Sachs can occur when parents pass on a changed gene to their child.
If a baby gets the changed gene from both parents, he or she will get the disease. If the baby gets the changed gene from only one parent, he or she will be a carrier. This means that the child will have one gene that produces hex A and one that doesn't. The child's body makes enough hex A so that he or she doesn't get the disease.
But the child can pass the changed gene on to his or her children. What are the symptoms? A child with Tay-Sachs disease looks healthy at birth. But when the child is: 3 to 6 months of age , you may notice that the child makes less eye contact and has a hard time focusing his or her eyes on things.
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