What is NCL2 (CLN2 disease)?
CLN2 disease, also known as NCL2 or late infantile neuronal ceroid lipofuscinosis, is a very rare, progressive neurodegenerative metabolic disease. It is caused by mutations in the TPP1 gene, as a result of which an important enzyme is missing. The disease usually begins between the ages of 2 and 4. Typical features are epilepsy, loss of acquired skills, movement disorders, visual impairment up to blindness and a shortened life expectancy.
Aids that are frequently used with NCL2:
Aids and support for everyday life
As CLN2 is a progressive disease, the provision of aids must be planned in advance in order to maintain quality of life and safety:
- Mobility & positioning: due to the ataxia and later paralysis, individually adapted wheelchairs or rehab buggies with very good trunk and head support are necessary. A tiltable seat enables relaxation phases.
- Safety during seizures:Epilepsy sensor mats for night-time monitoring and protective helmets for daytime use reduce the risk of injury in the event of sudden seizures or myoclonus.
- Augmentative and Alternative Communication (AAC): As speech is lost early on, simple buttons, speech output devices or tactile symbols can help. Due to blindness, the switch to acoustic and haptic communication is crucial.
- Care & positioning: A children's care bed with padding makes care easier and offers protection. Special mattresses and positioning cushions prevent pressure points when the child's own movements decrease.
- Feeding aids: In the case of progressive swallowing disorders, mobile feeding pumps support feeding via a tube (PEG) to minimize the risk of swallowing (aspiration).
Learn more
Here you can find more helpful information about NCL2:
www.orpha.net