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Batten Disease: Symptoms, Diagnosis, Treatment

Batten disease, also known as neuronal ceroid lipofuscinosis (NCL), is a group of rare inherited neurodegenerative disorders that typically begin in childhood. Common symptoms include vision loss, seizures, loss of motor skills, dementia, and abnormal movements. Diagnosis can be confirmed through DNA analysis to detect mutated genes, measurement of enzyme activity levels, blood or urine tests, skin or tissue sampling under microscopy, electroencephalogram, or diagnostic imaging. The only approved treatment is cerliponase alfa enzyme replacement therapy, which aims to slow loss of walking ability in one form of the disease. The prognosis is typically lifelong management rather than cure, as most genetic conditions cannot be recovered from.

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8 views2 pages

Batten Disease: Symptoms, Diagnosis, Treatment

Batten disease, also known as neuronal ceroid lipofuscinosis (NCL), is a group of rare inherited neurodegenerative disorders that typically begin in childhood. Common symptoms include vision loss, seizures, loss of motor skills, dementia, and abnormal movements. Diagnosis can be confirmed through DNA analysis to detect mutated genes, measurement of enzyme activity levels, blood or urine tests, skin or tissue sampling under microscopy, electroencephalogram, or diagnostic imaging. The only approved treatment is cerliponase alfa enzyme replacement therapy, which aims to slow loss of walking ability in one form of the disease. The prognosis is typically lifelong management rather than cure, as most genetic conditions cannot be recovered from.

Uploaded by

shahzaib
Copyright
© All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as XLSX, PDF, TXT or read online on Scribd

Disease/

Signs/Symptoms Treatment How diagnosed


Disorder

DNA analysis/genetic testing:


DNA analysis can confirm the presence of one of the mutated genes that cause an NCL disease,
as well as be used in prenatal diagnosis of the disease. Increasingly, the NCL genes are being
included on commercially available epilepsy gene panels.
children with the infertile and late-
measurement of enzyme activity: Various enzymes are either deficient or missing in NCL disorders.
infertile form usually show symptoms Measuring enzyme levels can be used to confirm or rule out CLN1 and CLN2 disease.
earlier than age 1 year. Common
symptoms for most of the forms blood or urine tests:
These tests can detect abnormalities that may indicate Batten disease. For example, elevated
include vision loss, seizures, delay levels of a chemical called dolichol are found in the urine of many individuals with NCL.  And the
and eventual loss of skills previously presence of abnormal white blood cells that contain holes or cavities—called vacuolated
acquired, dementia and abnormal lymphocytes—is common to certain disease mutations.
The only treatment approved by U.S food by
movements.
drug administration to treat batten disease is skin or tissue sampling:
Berineura (cerliponase alfa), an enzyme The accumulated lipofuscins form distinctive shapes—some look like half-moons while others look
Batten week Blindness like fingerprints—when viewed under a microscope. The lipofuscins also take on a greenish-yellow
replacement therapy designed to slow the loss color when viewed under an ultraviolet light microscope.
12 Agression
of walking ability in children with a type of
Spasm electroencephalogram (EEG):
batten disease called CLN2.
Restlessness An EEG monitors brain activity through the skull, using electrodes that are placed on the scalp. 
Rigidity Telltale patterns in the brain’s electrical activity suggest an individual has seizures.
Tremor electrical studies of the eyes:
Jerky These tests, which include visual-evoked responses (which measure electrical activity in the brain
generated by sight) and electroretinograms (used to detect abnormalities with the retina), can
identify various eye problems common in several NCLs. And the greenish-yellow color of
lipofuscins can sometimes be detected by examining the back of the eye:

diagnostic imaging:
Computed tomography (CT) and magnetic resonance imaging (MRI) create scans that can help
doctors look for changes in the brain’s appearance.
Prognosis

The prognosis of a
genetic condition
includes its likely course,
duration, and outcome.
When health
professionals refer to
the prognosis of
a disease, they may also
mean the chance of
recovery; however, most
genetic conditions are
life-long and are
managed rather than
cured

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