Neuronal ceroid lipofuscinosis type 2

This disease has a genetic cause, debuts at an early age and manifests itself in the form of delayed speech development and epileptic seizures, which become more frequent with age and are not treatable with antiepileptic drugs. Movement disorders are also characteristic: muscle twitching, muscle tremors, impaired muscle tone, “worm-like” muscle movements, muscle spasm, which leads to impaired and unsteady gait. Patients have behavioral disorders - isolation, a tendency to repeatedly repeat the same movements. In the later stages of the disease, intellectual impairment and visual impairment appear. The frequency of the disease is up to 8 per 100,000 population