Need for early diagnosis

The signs and symptoms of CLN2 disease go beyond epilepsy

Delays in diagnosis of CLN2 disease are common

  • Average age at diagnosis is 5 years – well into the neurodegenerative decline of CLN2 disease1
  • Diagnosis of CLN2 disease can be delayed because:1
    • Initial symptoms are non-specific
    • Low disease awareness
  • Early diagnosis enables access to CLN2-specific clinical care and social support, which may positively impact outcomes and quality of life of their child and their family1,2
  • Earlier diagnosis of CLN2 disease is crucial to parental awareness as genetic carriers and reinforces the importance of family planning3
  • Delays in diagnosis can be accompanied by exhaustive assessments and misdiagnoses before a definitive diagnosis is confirmed2,4
Diagnosis of CLN2 disease is delayed by an average of 2 years from the first observed seizure at the age of 3.

CLN2 disease is often initially misdiagnosed, delaying accurate diagnosis

The differential diagnosis of CLN2 disease varies depending on the stage of disease progression.

Early in the progression of CLN2 disease:3,5

  • Since seizures and myoclonus are the most prominent symptom, syndromes where myoclonus is common (e.g. focal epilepsy; myoclonic epilepsy syndromes/myoclonic-astatic epilepsies like Doose syndrome, Dravet syndrome, Lennox-Gastaut syndrome; or other epilepsy syndromes) are often suspected

Later in the progression of CLN2 disease:3

  • As the disease progresses and psychomotor regression and functional loss become more prominent, other progressive paediatric brain disorders may be suspected (e.g. inflammation/infections, tumours, mitochondrial disorders and other lysosomal storage diseases, including other NCL types)

References: 1. Fietz M et al. Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis. Mol Genet Metab. 2016; 119:160–167 2. Williams RE et al. Management Strategies for CLN2 Disease. Pediatr Neurol 2017;69:102–112. 3. Chang M et al. CLN2. In: Mole S, Williams R, and Goebel H, eds. The neuronal ceroid lipofuscinoses (Batten Disease). 2nd ed. Oxford, United Kingdom: Oxford University Press; 2011:80-109. 4. Pérez-Poyato MS et al. Late infantile neuronal ceroid lipofuscinosis: mutations in the CLN2 gene and clinical course in Spanish patients. J Child Neurol. 2013;28:470-478. 5. Mole SE, Williams RE, and Goebel HH. Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. Neurogenetics. 2005;6:107-126.