Tay-Sachs & genetics: what’s the link?

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Tay-Sachs is a genetic disorder that affects neurological function and has no cure. It is caused by a genetic mutation that impairs the body’s ability to metabolize fatty substances, resulting in neurological impairment. Diagnosis is confirmed through a Tay-Sachs screen test, and treatment focuses on managing symptoms. The severity of symptoms depends on the relationship between Tay-Sachs and genetics, and the length of life varies.

Tay-Sachs is a genetic disorder that negatively affects an individual’s neurological function. Individuals may experience symptoms as early as 3 months of age or later in their developmental years as they reach puberty or young adulthood. There is no cure for this rare disease, so treatment is focused on managing symptoms. The length of life depends entirely on the presentation of the relationship between Tay-Sachs and genetics for your situation and the severity of your symptoms.

An inherited genetic mutation, which prevents the proper production of the enzyme hexosaminidase A (hex A), causes the onset of Tay-Sachs symptoms. Carried on a non-sex chromosome, the enzyme gene mutation negatively affects the body’s ability to metabolize fatty substances, known as gangliosides, which build up and ultimately impair neurological function. Since the relationship between Tay-Sachs and genetics is considered an autosomal recessive disease, an individual must receive the genetic mutation from both parents to develop the disease. If the gene is inherited from only one parent, the child will remain asymptomatic and a carrier.

A physical exam is usually done to check for symptoms originating from Tay-Sachs and genetics. Generally, a diagnosis of Tay-Sachs is confirmed with the administration of a Tay-Sachs screen test, which measures the amount of hexadecimal A in an individual’s blood. Women who are pregnant and worried that their baby might be born with Tay-Sachs can have a Tay-Sachs screen test performed during an amniocentesis. Other forms of genetic testing may also be conducted on one or both parents to determine whether a child they can conceive can develop Tay-Sachs or remain a carrier.

The relationship between Tay-Sachs and genetics and disease progression may induce a patterned symptom presentation when neurological function becomes impaired. If a baby with Tay-Sachs becomes symptomatic by 3 months of age, they will usually show visual difficulties, such as an inability to focus on a single object and a hypersensitive reactivity to auditory stimuli. When symptoms occur after 6 months of age, the baby may experience impaired motor skills, lethargy, and impaired sensory perception, including vision and hearing. Individuals with late-onset Tay-Sachs disease (LOTS) will usually develop impairments in language and cognition and experience pronounced personality changes and psychological problems, including depression and psychosis.

Treatment for progressive neurological deterioration caused by Tay-Sachs and genetics usually focuses on managing symptoms and preventing complications. Medications may be given to relieve some symptoms, such as depression and seizures. For symptoms in infants, family support may be offered, including counseling and developing healthy coping strategies for the child’s caregivers and family. Home or hospital care is usually used as the health of the individual requires progressively around the clock care. People diagnosed with LOTTI are encouraged to take appropriate legal steps should their condition deteriorate, such as designating a power of attorney and drawing up a living will.

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