For further information visit the BDFA


About Batten Disease Page

Batten Disease is the common name for a group of diseases called the Neuronal Ceroid Lipofuscinoses (NCLs). They are rare, genetic, progressive neurodegenerative diseases that occur in children and adults worldwide. Batten Disease is the main paediatric neuro-degenerative disorder in the UK.
It affects 1:30,000 births and there are approximately 200 affected children and young adults in the UK. They are born apparently healthy, develop epilepsy, and lose their sight, speech, mental and motor abilities before dying between the ages of 5-30. There are 3 main types of Batten Disease, affecting children at different ages depending on which defective gene has been inherited, traditionally called Infantile, Late Infantile and Juvenile Batten Disease. There is also a congenital form and other variants of the disease. There is much research into all types, but no cure at present.

Juvenile Batten Disease

Juvenile NCL (JNCL) is usually caused by mutations in a gene called CLN3. The exact function of this gene in health and disease is still unknown.

Age at onset and first symptoms

Symptoms usually begin at early school age.
  • Eyesight: The leading symptom is isolated onset of visual failure due to retinal degeneration.
  • Loss of memory, awareness and altered ability to think and understand becomes evident several years after the onset of visual problems.
  • Speech. Speech gradually becomes strange and understandable only to the family.
  • Epilepsy. The severity of the epilepsy is quite variable with most young people suffering a first seizure between the ages of 5 and 18 years, at an average of 11 years of age.
  • Motor disorders. By their mid-teens, children may develop signs of Parkinsonism. They show a characteristic standing posture with bent knees and some degree of stiffness.
  • Psychological, psychiatric and behavioural problems. Sometime after the onset of visual loss, psychiatric disturbances of various types may occur.
  • Sleep disturbance and unrest.
Diagnosis

Diagnostic investigations usually include neurophysiological tests, a brain scan (MRI) and blood tests. A skin biopsy may also be needed.

Treatment

Therapy for young people with JNCL is essentially supportive. Medical management involves a number of aspects:
  • Vision aids in the early stages
  • Seizure control
  • Psychological, psychiatric and behavioural problems
  • Motor problems - Physiotherapy, wheelchairs, hoists and other equipment
  • Swallowing and Nutrition.
  • Management of continence
The Batten Disease Family Association (BDFA) is a national charity which aims to support families, raise awareness and facilitate research into the group of devastating neurodegenerative diseases commonly known as Batten Disease. They are based in Hampshire but work with children, young people, families and professionals across the UK.
They were in formed in 1998 with the help of SeeAbility and Contact-a-Family, by a small group of parents of children with Batten Disease . They were granted Registered Charity status in 2001 and the work of the charity has continued to go from strength to strength.
 

The BDFA receives no funding from statutory services so we rely on voluntary donations to continue our essential work
The BDFA’s mission is to: Bring light to Batten Disease by being the central point of excellence in the UK for raising awareness, supporting affected families, and facilitating research into the disease.
For further information please visit
http://www.bdfa-uk.org.uk


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