SNP Shot: Genomic Insights

Sandhoff disease is a rare genetic condition that causes progressive damage to nerve cells (neurons) in the brain and spinal cord (central nervous system). It's categorized into infantile, juvenile, and adult forms, based on when symptoms first manifest.

The infantile form is the most prevalent and severe type of Sandhoff disease, becoming noticeable in infancy. Babies with this condition seem normal initially but, between 3 and 6 months of age, their development slows, and muscle weakness sets in. They regress in motor skills, such as rolling over, sitting, and crawling, and exhibit an excessive startle response to sudden noises. As the disease advances, children experience seizures, vision and hearing impairment, and intellectual disability. A telltale sign is a cherry-red spot in the eye, detectable during an eye exam. Some children may also have unique facial features, enlarged organs (organomegaly), or skeletal abnormalities. Life expectancy for those with the infantile form is usually limited to early childhood.

The juvenile and adult forms of Sandhoff disease are exceedingly rare. Their symptoms are generally less severe than the infantile form but can vary considerably. The juvenile form typically starts between ages 2 and 10, with common features including speech problems, cognitive decline (dementia), seizures, and impaired muscle coordination (ataxia). Adult Sandhoff disease is marked by movement difficulties and psychiatric issues.

Inheritance:

Sandhoff disease is inherited in an autosomal recessive manner. This means that an individual must inherit a mutated copy of the responsible gene from both parents to develop the condition. While each parent carries one copy of the altered gene, they usually don't exhibit any signs or symptoms themselves.