Batten disease also known as spielmeyer-vogt disease, is a hereditary genetic illness that appears to disrupt the function of lysosomes, which are small structures within cells. Lysosomes are the cell's "recycle bin," regularly breaking down trash, proteins, and naturally occurring fatty molecules called lipids into smaller parts that can be discarded or recycled. Fatty acids, oils, waxes, and sterols are examples of lipids.
1. Mutated genes in Batten disease/NCLs do not produce adequate levels of proteins required for lysosomal function. Each gene (representing a type of disease) encodes data for a particular protein, which is, therefore, faulty and not produced.
2. These proteins are required for brain cells (neurons) and other cells to function properly. The absence of a functioning protein results in the aberrant accumulation of "junk" material in the lysosomes, as well as the abnormal accumulation of lipofuscin, a residue that happens normally as part of the lysosomal breakdown of lipids.
3. It is unknown whether the lipofuscin itself is harmful or whether the buildup is a sign of lysosomal dysfunction.
4. Children with any form of the disease have a significantly reduced life expectancy. In general, the increased risk of death depends on the type of disease and the age of the child at disease onset.
5. Kids with infantile Batten disease die young, often in infancy, although those with later-onset variants may live into their teens or thirties.
6. If the condition develops in maturity, the symptoms are usually milder and have no bearing on life expectancy.
Loss of vision,Epilepsy (seizures),Cognitive issues,Speaking difficulties ,Clumsiness and coordination problems
Tremors, tics, muscle spasms, and myoclonus,Mood, behavior, or personality changes,Dementia,Psychotic episodes and hallucinations,Disruptions in sleep,Spasticity and stiffness of the muscles,Weakness in the limbs, progressing to paralysis,Arrhythmia