Batten disease
- Article
- 2021-03-05
Batten's disease is the name for a group of inherited nervous system disorders that usually start in childhood and interfere with a cell's ability to recycle a cellular residue called lipofuscin. Batten is often used to describe the many forms of the disease called neuronal ceroid lipofuscinosis. The many forms of the disease are classified by the gene that causes the disease, with each gene called CLN (ceroid lipofucinosis, neuronal) and given a different number as a subtype. Due to the different gene mutations, the signs and symptoms vary in severity and progression at different rates. In general, symptoms are:
- progressive vision loss leading to blindness,
- to attack,
- movement disorder, and
- Dementia.
Developmental skills such as standing, walking, and talking may not be achieved or may be gradually lost. Other symptoms that get worse over time include learning difficulties, poor concentration, and progressive loss of language and speech skills. Most children become bedridden and can no longer communicate. Some children develop sleeping problems. Currently, most Batten disease diagnoses are made through genetic testing.
Therapy
The United States Food and Drug Administration has approved the use of cerliponase alfa to slow the progression of symptoms in children with late infantile CLN2 disease. Currently, no specific treatment can reverse the symptoms of Batten's disease or any form of CLN. Seizures can sometimes be reduced or controlled with anticonvulsants, and other medical problems can be treated appropriately if they arise. Physiotherapy and occupational therapy can help people to keep functioning for as long as possible.
Prognosis
Over time, affected children suffer from cognitive impairment, worsening seizures, and progressive loss of vision and motor skills. Ultimately, children with Batten's disease become blind, bedridden, and have dementia. Children with Batten's disease have a greatly reduced life expectancy. Children with infantile Batten disease often die in early childhood. Children with later forms of the disease can reach their teens to 30s, while those who develop the disease in adulthood can have a normal life expectancy.
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