SNP Shot: Genomic Insights

Tay-Sachs disease is a rare genetic condition passed down through families. It leads to the progressive destruction of nerve cells (neurons) in the brain and spinal cord, collectively known as the central nervous system, causing neurological issues.

Infantile Tay-Sachs disease, the most prevalent form, manifests early in infancy. Babies with this condition typically seem normal for the first 3 to 6 months of life. However, their development then slows down, and their muscles become weak. They cease to reach typical developmental milestones and begin to regress, losing skills like rolling over, sitting up, and crawling. A heightened startle response to loud sounds is also common. As the disease progresses, affected children experience involuntary muscle spasms (myoclonic jerks), seizures, difficulty swallowing (dysphagia), vision and hearing loss, and intellectual disability. A distinctive eye finding, a cherry-red spot visible during an eye exam, is a hallmark of this disease. Sadly, infants with infantile Tay-Sachs disease usually have a short lifespan, living only until early childhood.

Juvenile and late-onset Tay-Sachs disease are less common. The juvenile form's symptoms can emerge between the ages of 5 and the late teens. Late-onset Tay-Sachs disease typically presents in adulthood. Individuals with these forms generally experience milder and more diverse symptoms than those with the infantile form. Common characteristics of juvenile or late-onset Tay-Sachs disease include muscle weakness, impaired coordination (ataxia), speech difficulties, and mental health symptoms. The severity and types of symptoms can vary significantly among individuals with the late-onset form.

Inheritance:

Tay-Sachs disease follows an autosomal recessive inheritance pattern. This means that a person must inherit a mutated copy of the responsible gene from both parents to develop the condition. The parents, while carrying one copy of the mutated gene, typically do not exhibit any signs or symptoms of the disease themselves.