How is tay sachs disease diagnosed

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. A doctor may see a red spot on the child's retina. It might be hard for the child to sit up or roll over. You also may notice that the child does not see or hear well. The child may have seizures , have an intellectual disability , lose his or her vision, and not be able to move.

Children with Tay-Sachs rarely live beyond 4 years of age. How is Tay-Sachs disease diagnosed? How is it treated? Talk to your doctor about: Your concerns and the help you'll need for your child. A support group in your area.

Family counseling to help each member cope with the disease. Share on: Facebook Twitter. Show references National Library of Medicine. Tay-Sachs disease. Genetics Home Reference. Accessed Aug. Learning about Tay-Sachs disease. National Human Genome Research Institute. Tay-Sachs disease information page. National Institute of Neurological Disorders and Stroke. Riggin EA. Increased reflexes. Fat accumulation in muscle fibers.

Fat deposits in muscle fibers. Lipid accumulation in skeletal muscle. 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.

Frequency Tay-Sachs disease is very rare in the general population. Inheritance This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have variants. Research Studies from ClinicalTrials. Late-onset Tay-Sachs disease. Pract Neurol. Epub Jul Arch Neurol. The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of previously reported. Epub Oct 2. Erratum in: Pediatrics. Ann Neurol.

Epub Feb 7. Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles.