There are four main forms of Batten Disease.

Infantile

Onset between 6 months and 2 years, rapidly progressing with seizures, dementia, blindness and a severe loss of neurons.  Death normally occurs in mid childhood.


Late Infantile

Onset between 2 and 4 years, leading to seizures, blindness, loss of muscle coordination, mental deterioration and dementia. Death normally occurs between the ages of 8 and 12.


Juvenile

Onset between 5 and 9 years, characterised by developmental regression, leading, amongst other things, to vision loss, seizures, loss of motor abilities and dementia.Death may occur any time from the late teens to the mid thirties.

Ceroid Lipofuscinoses (NCL) are progressive degenerative, genetic metabolic diseases that occur in children and adults. The condition is named after the British pediatrician who first described it in 1903. Batten Disease is relatively rare occurring in about one in 30,000 births. The illness leads to a progressive deterioration of the brain and nervous system.


Adult

Onset normally before the age of fourteen, symptoms are milder than the other forms of the disease. Age of death is variable but life expectancy is shortened. In addition, there are several other less common subgroups. Batten Disease is rarely diagnosed immediately and is often mistaken for epilepsy, mental retardation, retinitis pigmentosa, even schizophrenia in adults.

An opthalmologist can observe pathological changes in the retina. This often provides one of the first diagnostic clues.
Onset is characterised by beginning vision loss, seizures, clumsiness and personality and behavioural changes. Batten Disease causes continuing physical and mental deterioration, leading to death.

It is a recessive inherited disease, meaning both parents must carry the same gene. A child must inherit a copy of the bad gene from both parents in order to be affected. A child that inherits a bad copy from just one parent will be a carrier. The group of diseases known as Batten Disease or the Neuronal Ceroid Lipofuscinoses (NCL) are progressive degenerative, genetic metabolic diseases that occur in children and adults. The condition is named after the British pediatrician who first described it in 1903. Batten Disease is relatively rare occurring in about one in 30,000 births. The illness leads to a progressive deterioration of the brain and nervous system.

Although our understanding of Batten Disease is improving all the time, there is at present no cure or treatment that has any significant impact on the inexorable decline in bodily functions and inevitable early death. A number of different forms of Batten Disease have been identified. They are classified by age but are all genetically different.

Although our understanding of Batten Disease is improving all the time, there is at present no cure or treatment that has any significant impact on the inexorable decline in bodily functions and inevitable early death. A number of different forms of Batten Disease have been identified. They are classified by age but are all genetically different.

 

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