Gallery

Powered by Blogger.

Followers

Total Pageviews

Blog Archive

Travel

Technology

Friday, November 3, 2017

Batten Disease

Batten disease is an extremely rare and fatal autosomal recessive neurodegenerative disorder that begins in childhood. It is the most common form of a group of disorders called the neuronal ceroid lipofuscinoses (NCLs). 
 Early signs and symptoms of the disorder usually appear around ages 2–10, with gradual onset of vision problems, or seizures. Early signs may be subtle personality and behavior changes, slow learning or regression, repetitive speech or echolalia, clumsiness, or stumbling. Slowing head growth in the infantile form, poor circulation in lower extremities (legs and feet), decreased body fat and muscle mass, a curvature of the spine, hyperventilation and/or breath-holding spells, teeth grinding, and constipation may occur.
 Over time, affected children suffer mental impairment, worsening seizures, and progressive loss of sight, speech, and motor skills. Batten disease is a terminal disease; life expectancy varies depending on the type or variation. Females with juvenile Batten disease show first symptoms a year later than males, but on average die a year sooner
NCLs are a family of diseases which are inherited in an autosomal recessive manner. Collectively referred to as Batten disease, NCLs are responsible for the majority of neurodegenerative diseases that affect children. Specifically, the frequency of this disease is about one per 12,500 individuals. The specific type of NCL is characterized by the age of symptomatic onset and genetic mutation involved. Currently, mutations in 10 genes lead to the development of Batten disease.
NEXT ARTICLE Next Post
PREVIOUS ARTICLE Previous Post
NEXT ARTICLE Next Post
PREVIOUS ARTICLE Previous Post
 

Sports

Delivered by FeedBurner