Batten Disease

Batten Disease Latest News

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.

About Batten Disease

• 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.

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What Causes Batten Disease?

• 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.

Batten Disease Symptoms

• 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.

Batten Disease Treatment 

• Currently, there is no treatment to reverse the effects of Batten disease. 
• But some medications can help improve symptoms like seizures. 
• Some people with Batten disease get physical or occupational therapy to help them function.

Source: MED