Batten Disease:
Researchers recently have found that male and female brains show different responses as the Batten Disease progresses and have found a model of the disease that could transform future treatments
- It is a very rare genetic disorder that affects the brain and nervous system.
- Batten disease is a congenital, progressive, and terminal neurological disease.
- Symptoms sometimes begin in infancy and sometimes later in childhood, after apparently normal early development.
- Occasionally it may start in adulthood.
- In individuals suffering from Batten disease, nervous system function steadily declines, causing a wide variety of neurologic problems, including loss of vision and seizures.
- 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.
- Batten disease is actually a family of related disorders also known as neuronal ceroid lipofuscinoses.
- 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).
- There are 13 known forms of Batten disease (CLN1 through CLN14).
- Each form is classified by the specific version of the CLN (ceroid lipofuscinosis, neuronal) gene that causes it, with each numbered subtype referring to a different gene that causes its own respective form of the disease.
- The most common type of Batten disease is CLN3.
- Most forms of Batten disease cause vision loss, seizures, delayed developmental milestones, behavioral and learning problems, and loss of language and motor skills.
- Some children with infantile Batten disease also develop microcephaly.
- Vision loss is often the first symptom and can rapidly progress.
- Parents also often notice clumsiness and stumbling in older children due to a loss of motor coordination.
- Eventually, children with Batten disease become blind, unable to walk, talk, or swallow, and confined to a wheelchair or bed.
- Currently, there is no treatment to reverse the effects of Batten disease.
- But some medications can help improve symptoms like seizure
- Some people with Batten disease get physical or occupational therapy to help them function.
