Batting for Battens Inc.

22 Cambridge Place, Wishart, QLD, 4122
enquiries@bfbf.org.au
ABN 40 931 835 917 Endorced DGR
Donations over $2 are Tax Deductible

What is Batten Disease?

The four main forms are:

Infantile

Onset between 6 months and 2 years, rapidly
progressing with seizures, dementia, blindness
and a severe loss of neurones. 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.

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 paediatrician 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.