“I’d read about it but never seen an adult patient.” “It is not unheard of to develop Niemann-Pick disease as an adult, but it is very, very rare,” Dr. Reynolds got by for more than four decades before the disease finally started taking a toll. Instead, a mutation occurred in a region of DNA that controlled the normal gene, hobbling it. But the other Niemann-Pick gene was normal. Like children with the disease, she inherited one Neimann-Pick gene that was so mutated it did not function at all. Reynolds’s disease was unusual, said her neurologist at the N.I.H., Dr. To get the disease, a person usually must inherit two faulty copies of the Niemann-Pick gene, one from each parent. Typically young patients die of aspiration pneumonia within a decade. The disease progresses relentlessly to include seizures and dementia. The fundamental problem is a steady accumulation of cholesterol and other lipids inside the body’s cells, which damages organs and the central nervous system.
0 Comments
Leave a Reply. |