Batten disease

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Batten Disease

Batten disease (pronounced: /ˈbæt.ən/), also known as Spielmeyer-Vogt-Sjögren-Batten disease, is a rare, fatal, inherited disorder of the nervous system that typically begins in childhood. The disease is named after the British pediatrician Frederick Batten who first described it in 1903.

Etymology

The term "Batten" is derived from the name of the British pediatrician, Dr. Frederick Batten, who first described this disease. The term "disease" comes from the Old French maladie meaning "sickness or illness".

Symptoms

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. Over time, affected children suffer mental impairment, worsening seizures, and progressive loss of sight and motor skills.

Causes

Batten disease is caused by a mutation in a gene (a segment of DNA) that controls the production of a protein necessary for cells in the brain and other parts of the body to function normally. The disease is inherited in an autosomal recessive manner.

Diagnosis

Diagnosis of Batten disease is based on clinical and neurological examination, specific diagnostic tests (such as enzyme assays or genetic testing), and the observation of specific changes in the eye.

Treatment

There is currently no cure for Batten disease, but certain treatments can help manage symptoms. Physical therapy, occupational therapy, and speech therapy may also be beneficial.

Related Terms

See Also

External links

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