Spielmeyer-vogt Disease (Noun)
Meaning
A congenital progressive disorder of lipid metabolism having an onset at age 5 and characterized by blindness and dementia and early death.
Classification
Nouns denoting natural processes.
Examples
- Spielmeyer-Vogt disease is a rare and devastating congenital disorder that affects lipid metabolism and leads to progressive blindness and dementia.
- Researchers are working to develop new treatments for Spielmeyer-Vogt disease, which is caused by a deficiency in the enzyme palmitoyl protein thioesterase.
- Symptoms of Spielmeyer-Vogt disease typically begin to appear at around age 5, with visual disturbances and cognitive decline progressing rapidly over the next few years.
- Children with Spielmeyer-Vogt disease often experience seizures, tremors, and muscle weakness as the disease progresses.
- Spielmeyer-Vogt disease is named after the two scientists who first described the condition, and it is also known as juvenile ceroid lipofuscinosis type 3.