Tay-Sachs is a genetic disorder that adversely affects an individual’s neurological function. Individuals may demonstrate symptoms as early as 3 months of age or later in their developmental years when they reach puberty or young adulthood. There is no cure for this rare disease, therefore, treatment is centered on symptom management. One's lifespan is entirely dependent on the presentation of the relationship between Tay-Sachs and genetics for his or her situation and the severity of his or her symptoms.
An inherited gene mutation, which prevents the proper production of the hexosaminidase A (hex A) enzyme, causes the onset of Tay-Sachs symptoms. Carried by a non-sex chromosome, the enzymic gene mutation adversely affects the body’s ability to metabolize fatty substances, known as gangliosides, which accumulate and eventually impair neurological function. Since the relationship between Tay-Sachs and genetics is considered an autosomal, recessive disorder, an individual must receive the gene mutation from both parents to develop the disease. If the gene is inherited from a single parent, the child will remain asymptomatic and a carrier.
A physical examination is usually performed to verify the presence of 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 hex A in the individual’s blood. Women who are pregnant and concerned that their child may be born with Tay-Sachs may 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 if a child they may conceive may develop Tay-Sachs or remain a carrier.
The relationship between Tay-Sachs and genetics and disease progression can induce a patterned symptom presentation as neurological function becomes impaired. If a child with Tay-Sachs becomes symptomatic by 3 months of age, he or she will usually demonstrate vision difficulties, such as an inability to focus on a single object, and a hypersensitive responsiveness to auditory stimuli. When symptoms manifest after 6 months of age, the child 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 impaired speech and cognition and experience pronounced personality changes and psychological issues, including depression and psychosis.
Treatment for the gradual neurological impairment caused by Tay-Sachs and genetics is usually centered on the management of symptoms and preventing complications. Medications may be given to alleviate certain symptoms, such as depression and seizures. For symptoms in infants, family support may be offered, including counseling and the development of healthy coping strategies for the infant’s caregivers and family. In-home or hospice care is usually utilized as the individual’s health progressively necessitates around-the-clock care. Those diagnosed with LOTS are encouraged to take appropriate legal measures in the event their condition deteriorates, such as designating a power of attorney and composing a living will.
