Batten disease, also called neuronal ceroid lipofuscinoses or NCLs, refers to a group of severe neurological conditions caused by defects in the processes involved in breaking down a substance called lipofuscin.
Lipofuscin accumulates inside cells in structures called lysosomes — the parts of the cell responsible for breaking down waste — and this buildup becomes toxic. It also accumulates in cells and tissues elsewhere in the body, such as the eyes, skin, and muscles.
Because brains cells are particularly sensitive to the toxic effects of excess lipofuscin accumulation, people with Batten display symptoms such as seizures, vision loss, and progressive cognitive and motor difficulties.
Symptoms usually develop between ages 5 and 10, though the earliest symptoms — such as behavioral changes or clumsiness — can be subtle.
Because of widely variable genetic mutations, the symptoms and onset of Batten disease can differ from person to person.
Most patients develop damage to the retina — a thin layer that lines the back of the eye and contains photoreceptors that change light into electrical signals — caused by lipofuscin accumulation. This leads to vision deterioration, which is often the first sign of Batten disease.
Partial or complete loss of vision often develops in patients who have childhood forms of the disease (usually beginning around the age of 5), while it is usually preserved in those with adult forms of Batten disease.
Vision problems often appear before the severe neurological and developmental issues also related to Batten, making it hard to diagnose properly.
Seizures occur due to abnormal electrical activity of nerve cells in the brain. In children with Batten disease, seizures usually begin at around age 8, but can develop at any time during the disease.
Seizures may be generalized, when abnormal electrical activity occurs simultaneously in all parts of the brain, or may be partial, if this occurs in one part of the brain. Generalized seizures can be experienced by patients with any type of Batten disease.
Another type of seizure is called status epilepticus and occurs when the seizure lasts longer than usual or is continuous.
Cognitive and communication issues
Patients with Batten often have intellectual disability and cognitive decline. Some children experience memory loss and may be slow learners.
In later stages of the disease, patients lose the ability to communicate or move, and almost all develop severe dementia, a condition characterized by a deterioration of intellectual skills. Patients can also lose memory and the ability to perform everyday activities.
Speech impairment may be observed in later stages, wherein patients lose the ability to communicate. Some patients may also experience echolalia (repetitive speech).
Some children may have personality or behavioral changes, such as anxiety, depression, and aggressiveness.
Due to anxiety, individuals with Batten may feel tense and have recurring intrusive thoughts. Physical symptoms such as palpitations, sweating, trembling, and dizziness may occur.
Depression can manifest as weight and appetite loss, as well as loss of interest in things that used to be sources of enjoyment. A lack of energy, sudden bouts of crying, poor concentration, and thoughts of death may also arise.
These mood changes may intensify as the patient becomes more distressed and frustrated as the disease progresses and other symptoms develop.
Movement and coordination issues
People with Batten may experience progressive muscle weakness, as well as abnormally stiff and rigid muscles (spasticity). Ataxia — a lack of muscle control or coordination of voluntary movements — and involuntary movements (tremors or jerky muscle movements known as myoclonus) may also be present.
These symptoms usually begin during early childhood, except in rare cases of adult-onset Batten disease. How and when these symptoms change or worsen are unpredictable, although they tend to worsen with time. It is also typical for children to lose previously learned skills such as walking and crawling.
As patients reach their late teens or early twenties, some may begin to develop cardiac symptoms, such as an irregular heartbeat (arrhythmias) and an increase in the thickness of the heart muscle, a condition known as hypertrophic cardiomyopathy.
While it is evident that the heart is affected in NCLs, there are significant gaps in recognizing what is wrong and, mainly, why and when.
Last updated: May 24, 2021
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