Batten disease is an extremely rare, fatal and incurable neurological condition where children who had previously been healthy and hitting developmental milestones lose their motor skills, speech, sight and ability to eat. Children with Batten disease also experience seizures and childhood dementia.
The life expectancy of a child born with Batten disease can vary, depending on the form of the disease and the age of onset. Some children die in early childhood, while others may be able to live into their teens or twenties.
Adult Batten tends to run a milder course than the more common childhood forms of Batten disease and vision is usually preserved. But adults with this disorder — caused by mutations in different genes — often experience muscle contractions and seizures, and sometimes movement and coordination problems.
Currently no specific treatment can reverse the symptoms of Batten disease or any form of CLN. Seizures can sometimes be reduced or controlled with anticonvulsant drugs, and other medical problems can be treated appropriately as they arise.
“Nathan is the oldest living Batten patient in the world,” said Phil, sitting in the same suburban living room where he first plotted Nathan's Battle when his little boy was four years old and gradually losing his eyesight.
Batten Disease is an inherited genetic disorder in which the brain cells are missing an enzyme called tripeptidyl peptidase 1 (TPP1), which causes waste buildup in the cells' neurons. As a result, the cells gradually lose their function and die.
Childhood dementia results from progressive brain damage and is caused by over 70 rare genetic disorders including Niemann-Pick type-C, Batten disease and Sanfilippo syndrome.
Batten disease is a fatal, inherited disorder of the nervous system that typically begins in childhood. Early symptoms of this disorder usually appear between the ages of 5 and 10 years, when parents or physicians may notice a previously normal child has begun to develop vision problems or seizures.
Batten disease is named after the British pediatrician Frederick Batten, who first described it in 1903. Also known as Spielmeyer-Vogt-Sjögren-Batten disease, it is the most common form of a group of disorders called neuronal ceroid lipofuscinosis (NCL).
Based on the age of onset, Batten disease can be grouped into five types: congenital, infantile, late infantile, juvenile, and adult.
Also known as Spielmeyer-Vogt-Sjogren-Batten disease, Batten disease is the most common form of a group of disorders called neuronal ceroid lipofuscinoses (or NCLs).
The only treatment approved by the U.S. Food and Drug Administration to treat Batten disease is Brineura (cerliponase alfa), an enzyme replacement therapy designed to slow the loss of walking ability in children with a type of Batten disease called CLN2.
The typical early signs are loss of muscle coordination (ataxia) and seizures along with progressive mental deterioration. This form progresses rapidly and ends in death between ages 8 and 12. Juvenile NCL (Batten Disease) begins between the ages of 5 and 8.
Currently, most diagnoses of Batten disease are made by genetic testing. Possible diagnostic tests include: DNA analysis/genetic testing. DNA analysis can confirm the presence of one of the mutated genes that cause an NCL disease, as well as be used in prenatal diagnosis of the disease.
Administration: The examiner reads a list of 5 words at a rate of one per second, giving the following instructions: “This is a memory test. I am going to read a list of words that you will have to remember now and later on. Listen carefully. When I am through, tell me as many words as you can remember.
It takes years to find the cause – Juvenile Batten Disease – an extremely rare and inevitably terminal diagnosis. After living only 16 short years, Kennedy leaves behind an incredible legacy of love and friendship. But her story doesn't end with her passing, it's only then the true miracles really begin.
Batten disease and inflammation
Some studies suggest that certain symptoms of Batten disease could be caused by an autoimmune response, in which the patient's immune system attacks the body's own tissues, causing cell death.
Batten's disease is a rare neurodegenerative disorder named after a British pediatrician Frederick Batten, who described the clinical entity in 1903.
The only sure way to diagnose Batten disease is through genetic testing. To perform a genetic test for Batten disease (or other genetic condition), the patient's DNA is purified from a blood sample. The DNA is then sequenced – where the exact DNA sequence of the gene is determined.
Progressive vision loss, and eventually blindness, are the hallmarks of juvenile neuronal ceroid lipofuscinosis (JNCL) or CLN3-Batten disease.
Asherson's syndrome is an extremely rare autoimmune disorder characterized by the development, over a period of hours, days or weeks, of rapidly progressive blood clots affecting multiple organ systems of the body.