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Medically reviewed by Alan Lucks | MD, Alan Lucks MDPC Private Practice - New York on September 8th, 2023.
Key Takeaways
- This rare neurological disorder affects 2-4 per 100,000 births and is caused by mutations in at least 13 different CLN genes inherited from both parents in an autosomal recessive pattern.
- The four main forms progress at different rates: congenital (symptoms at birth), infantile (6 months-2 years), juvenile (5-8 years), and adult onset (after age 16), with juvenile being most common.
- Early symptoms include rapid vision loss leading to blindness by age 10, followed by seizures, personality changes, dementia, and progressive loss of speech and motor skills over 10-20 years.
- Cerliponase alfa (Brineura) is the only FDA-approved treatment, given as biweekly spinal injections specifically for CLN2 disease, and can slow motor function decline by approximately 2 points annually on clinical scales.
- Diagnosis requires specialized enzyme testing, genetic analysis, or electron microscopy of skin/blood samples to detect characteristic lipofuscin deposits that accumulate in cells.
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.
Symptoms of 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
Types of Batten Disease
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.
Diagnosing Batten Disease
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
Treatment Options for 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) which can slow the rate of loss of walking function. Other symptoms can be managed with medications, physical therapy, and occupational therapy. Ultimately, all forms of Batten disease are fatal.
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:
The Bottom Line
While most forms remain fatal within 10-20 years of symptom onset, early genetic testing is crucial since one specific type (CLN2) has an available treatment that can meaningfully slow progression. If your child is experiencing unexplained vision loss combined with developmental regression or seizures, Doctronic can help connect you with specialized testing quickly.
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