Juvenile neuronal ceroid lipofuscinosis also known as CLN3 or JNCL, is part of the group of diseases called neuronal ceroid lipofuscinoses. CLN3 appears in childhood, usually between ages 5 and 15. It leads to a decrease in brain and motor function.
The first symptom of CLN3 is often loss of vision. Other symptoms include seizures, balance and movement problems, muscle spasms, stiff movements, weakness and paralysis of the limbs, and sleep disturbances. As individuals age and symptoms worsen, they may also develop behavioral and personality changes including mood swings, anxiety, stuttering, and hallucinations. Usually by their twenties or thirties, neurological and mental degeneration has progressed to the point where individuals are bedridden and cannot communicate easily.
Juvenile CLN3 is a genetic condition caused by mutations (changes) in the CLN3 gene. We inherit our genes in pairs, one from each parent typically. Juvenile CLN3 is inherited in an autosomal recessive manner. Autosomal recessive means that an individual must have two copies of the changed gene or mutation that causes the condition. If both parents are carriers of the condition, each child has a one in four chance (25%) of having the disease.
The condition may be diagnosed through clinical symptoms and special tests including studies that look at samples of the skin to identify patterns present in CLN3. Additionally, an instrument that measures the electrical response to light and genetic testing may be used in making the diagnosis. Treatment is specific to the symptoms present in the affected individual, but often includes teams of pediatricians, neurologists, eye doctors, physical therapists, and psychiatrists. Medications may be helpful to treat seizures, behavior changes, and hallucinations. If you or a family member has been diagnosed with juvenile neuronal ceroid lipofuscinosis, talk to your doctor about the most current treatment options.
Description Last Updated: Mar 09, 2018