Pronunciation: [bˈatən dɪzˈiːz] (IPA) 
Batten disease is a rare and deadly neurological disorder that affects children. The spelling of Batten disease is pronounced /ˈbætən dɪˌziːz/, with the initial "b" being pronounced like the letter "b" in "bat". The "a" sound is like the "a" in "cat", and the "e" sound is like the "e" in "bed". The second syllable has a long "i" sound, like the "i" in "ice". Finally, the "z" at the end is pronounced like a "z" in "buzz".
Batten disease, also known as Neuronal Ceroid Lipofuscinosis (NCL), is a rare and fatal genetic disorder that primarily affects the nervous system. It is characterized by the abnormal accumulation of lipopigments, specifically ceroid and lipofuscin, in the cells of various tissues, especially in the brain and retina.
The disease typically manifests in childhood and progressively worsens over time, leading to a decline in cognitive function, motor skills, and vision. Symptoms may include seizures, loss of sight, delayed development, intellectual disabilities, decline in memory and speech, movement disorders, and eventually, premature death. The severity and age of onset of the symptoms may vary depending on the specific subtype of Batten disease.
Batten disease is caused by mutations in different genes that affect the production or functioning of enzymes responsible for breaking down cellular waste materials. This impairment leads to the accumulation of lipopigments, which then disrupts normal cell function and ultimately leads to cell death.
There are various subtypes of Batten disease, categorized by the specific gene mutation involved. These include CLN1 disease, CLN2 disease, CLN3 disease, and several others. Each subtype has its own distinct genetic cause and corresponding progression and symptoms.
At present, there is no cure for Batten disease. Treatment involves managing symptoms and providing supportive care to enhance quality of life. Research is ongoing to develop potential therapies and interventions to slow down the progression of the disease and improve the outlook for affected individuals and their families.
The term "Batten disease" is named after the British pediatrician who first described it, Dr. Frederick Batten. Dr. Batten, along with Dr. Herndon G. Dowling, identified and characterized the disease in a series of case studies published in the early 20th century.
Batten disease, also known as neuronal ceroid lipofuscinosis (NCL), refers to a group of genetic neurodegenerative disorders that primarily affect children. The disease is characterized by the abnormal accumulation of lipopigments (a type of autofluorescent storage material) in various tissues of the body, including the brain.
Dr. Frederick Batten's contribution to the understanding and classification of these diseases earned him the recognition of having his name associated with the disorder.
