Batten Disease in dogs, also known as Neuronal Ceroid Lipofuscinosis (NCL) or Canine Ceroid Lipofuscinosis (CCL), is a fatal, inherited neurological disorder causing progressive loss of brain and vision, leading to seizures, coordination issues (ataxia), behavioral changes, and eventual death, typically by age 3, due to a metabolic error causing harmful storage material buildup in cells. It's similar to the human condition and affects various breeds, with specific genetic mutations identified in breeds like Golden Retrievers and Dachshunds.
It can be caused by genetic mutations in any of more than a dozen known genes, collectively referred to as CLN genes (CLN1, CLN2, etc). Because the disease is recessive, children must have two copies of a CLN mutation — one from each parent — to be affected.
Currently, there is no cure for Batten disease. There is one treatment for CLN2 disease (cerliponase alfa, Brineura) that may help slow down the disease.
Juvenile NCL (Batten Disease) begins between the ages of 5 and 8. The typical early signs are progressive vision loss, seizures, ataxia or clumsiness. This form progresses less rapidly and ends in death in the late teens or early 20s, although some may live into their 30s.
Batten disease is a group of genetic conditions that cause waste material to build up in your child's brain cells. It affects the structure and function of cells (neurodegeneration) and ultimately causes their death. Batten disease is fatal.
Seizure symptoms may include:
Tragically, the disease is fatal. There are some treatments which can help with some of the symptoms of juvenile Batten disease, such as seizures. But there is no treatment that can slow the progression of the disease, which is caused by problems with a specific gene and is an inherited neurodegenerative condition.
Neurodegenerative disorders gradually damage nerve cells, leading to problems with movement, memory, or behavior. Common symptoms include memory loss, tremors, difficulty walking, mood changes, and personality shifts.
Cystic fibrosis (CF) is the most common fatal genetic disease in the United States today. It causes the body to produce a thick, sticky mucus that clogs the lungs, leading to infection, and blocks the pancreas, stopping digestive enzymes from reaching the intestines where they are required to digest food.
Signs and symptoms of childhood dementia
Batten disease is a rare neurodegenerative and fatal inherited disorder of childhood. Vision loss, seizures, hallucinations, and mental and motor function impairment emerge after seemingly typical development. Little is known about the pain experience of individuals with Batten disease.
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).
You receive half your genes from each biological parent and may inherit a gene mutation from one parent or both. Sometimes genes change due to issues within the DNA (mutations). This can raise your risk of having a genetic disorder. Some cause symptoms at birth, while others develop over time.
Both parents must carry the gene to pass it down and because it is a genetic disorder, siblings of children with Batten disease have a 25% chance of developing the disease. People of Scandinavian or Northern European descent have an increased likelihood of developing the disease.
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.
The end of life or palliative phase in neurodegenerative illness is defined as the last 6 to 12 months (though unpredictable declines can occur). The last days of life are typically the final 2–3 days but may be several weeks.
Cognitive Test. Cognitive tests are short, quick tests to check how well your brain is functioning. These tests don't diagnose specific diseases. Instead, they identify a problem with cognition and the need for more in-depth testing.
Some physical malformations associated with Edwards' syndrome include small head (microcephaly) accompanied by a prominent back portion of the head (occiput), low-set, malformed ears, abnormally small jaw (micrognathia), cleft lip/cleft palate, upturned nose, narrow eyelid openings (blepharophimosis), widely spaced ...
They do not have a forebrain or cerebrum (the major "thinking" structure of the brain), and the remaining brain tissue is often not covered by bone or skin. The baby will be blind, deaf, unconscious and unable to feel pain.
Batten Disease and Gene Therapy
Gene therapy delivers a functional version of the faulty gene into cells, giving it instructions to produce the proteins needed to restore lysosomal function. To deliver this working gene, a vector is used, which is like an envelope carrying a message.
If the person is lying down, turn them gently on their side, with their mouth pointing to the ground. This will keep their airway clear. Time the seizure to track if it lasts more than 5 minutes. If it does, seek immediate medical attention or call 911.
Use the three C's campaign (Calm, Cushion, Call) to ensure everyone knows what to do if they see someone having a seizure. Stay CALM and stay with the person who is having a seizure.