forms, symptoms, and progressions
- There are three different types of Tay-Sachs disease, and they are classified by the age of the person when their symptoms emerge. The forms are Infantile, Juvenile, and Late Onset, and each display different symptoms.
- A baby with Infantile Tay-Sachs will seem normal when they are born and continue to do so until about 6 months, when it becomes apparent that the baby's development has slowed. Some senses like sight become impaired, and the baby doesn't outgrow certain responses, like an over-exaggerated startle response. The babies continue to regress, losing skills one at a time. Eventually, they have issues with instinctual functions such as breathing and swallowing. By age 2, the child usually experiences reoccurring seizures and inhibited mental functions and senses. As a result, the child becomes almost completely non-responsive to their environment.
- Initial symptoms of the Juvenile form include muscle weakness, like difficulty climbing stairs; lack of coordination; muscle cramps; slurred speech; and difficulties swallowing. These children gradually regress, losing the ability to perform basic skills like walking, talking, and eating by themselves. A weak immune system is linked to this form, as children are susceptible to respiratory infections and often have multiple bouts of pneumonia. Most experience seizures. Interestingly, the earlier symptoms are observed the more quickly the disease will progress.
- The first symptoms of the Late Onset form include clumsiness and leg muscle weakness. Once they're diagnosed, patients often recall noticing symptoms from earlier on in their lives, such as never being athletic and/or difficulty speaking. Some adults, around 40%, experience mental health issues, like being bi-polar or having psychotic episodes. Those affected slowly decline, and progressively require more mobility assistance. They also experience speech and swallowing issues.