Batten disease is a rare group of nervous system disorders called neuronal ceroid lipofuscinosis (NCLs) or ceroid lipofuscinosis, neuronal (CLN). This genetic condition usually starts in childhood and worsens over time, affecting approximately two to four out of every 100,000 babies born in the United States. In this article, we'll explore the symptoms, types, diagnosis, and treatment options for Batten disease.
As Batten disease progresses, it damages the brain and nervous system, leading to various symptoms, including:
Seizures
Changes in personality and behavior
Dementia
Speech and motor skills problems that worsen over time
There are four main types of Batten disease, each with its own characteristics and age of onset:
Congenital NCL: Affects babies and can cause seizures and abnormally small heads (microcephaly). It is very rare and often results in death soon after birth.
Infantile NCL (INCL) (CLN1): Usually appears between 6 months and 2 years of age, causing microcephaly and muscle jerks. Most children with INCL die in early to mid-childhood.
Late Infantile NCL (LINCL) (CLN2): Typically starts between 2 and 4 years old with symptoms like seizures and gradual loss of walking and speaking abilities. LINCL is usually fatal by the age of 8 to 12 years.
Adult NCL (ANCL) (CLN4 or Kufs disease type B): Begins before the age of 40 with movement problems and early dementia. People with ANCL have shorter life spans, but the age of death varies from person to person.
Batten disease is often misdiagnosed due to its rarity and shared symptoms with other conditions. Eye doctors may be the first to suspect a problem, as vision loss is usually one of the earliest signs. Neurologists can perform various tests to diagnose Batten disease, including:
Tissue samples or eye exams to look for buildup of deposits
Blood or urine tests to identify abnormalities
Electroencephalogram (EEG) to record brain activity and detect seizures
Imaging tests like CT scans or MRIs to identify brain changes
DNA tests to confirm a diagnosis if family members have Batten disease
Currently, there is no known cure for most forms of Batten disease. However, in 2017, the FDA approved an enzyme replacement therapy called cerliponase alfa (Brineura) for CLN2 disease (TTP1 deficiency). Other symptoms can be managed with medications, physical therapy, and occupational therapy.
Seizures can be improved with certain medications, while therapy can help individuals with Batten disease maintain their functioning. Scientists continue to research possible treatments and therapies for this rare condition.
For more information on Batten disease, visit the following reputable sources:
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