Under this title, we have included some information that we think will be useful about NCL disease, its causes, symptoms, types and treatment methods.
NCL is an inherited nervous system disease that starts in childhood and has fatal consequences. In general, the root cause, progression, and result are the same. There are 8 different genes that cause this disease and the disease is classified according to the age of onset. Specifically, the disease is caused by the accumulation of lipofuscin, which is composed of fats and proteins, in the tissues. These substances are located on the lysosome, and the lysosomes are responsible for cleaning waste products.
What Causes Ncl Disease?
It is a type of disease inherited in an autosomal recessive manner, as there are cases of autosomal dominant inheritance in NCL patients. In other words; It can be defined as two copies of defective genes, one from the mother and one from the father. It is a type of disease that occurs when lysosome organelles in the cell lose their functions.
Types of Ncl Disease
There are 4 types of NCL in total, which are divided into 3 types in childhood and 1 type in adulthood. Some symptoms in childhood become more pronounced in later years. Congenital NCL is a very severe type. They appear as small-headed in infants and die soon after birth. Infantile NCL is seen between the ages of 6 months and 2 years and progresses rapidly. Children under its influence do not develop. They suffer severe muscle contractions and usually die before the age of 5. Exceptionally, there are infants who survived in the vegetative state.
Late infantile NCL occurs between the ages of 2 and 4 years. Among the general symptoms are ataxia and seizures that do not affect the drugs. This progresses rapidly as in other ages and results in death at the age of 8 years. Adult NCL begins just before the age of 40 and progresses slowly. Due to the late onset situation, the exact age of death is not specified, but it shortens the life span.
NCL Disease often differs in terms of the types it contains and because it has different mutations.
- vision loss
- Personality and behavioral changes
- difficulty understanding
- Intense muscle contraction
- Head smaller than body
- difficulty moving
- Posture disorder
Generally, individuals with this disease are more likely to be bedridden because they have difficulty moving.
Ncl Disease Treatment
No specific treatment has yet been found that can prevent NCL disease and reverse symptoms. Only seizures can be reduced with medication. In this disease, which causes loss of movement, only early loss of movement can be delayed with physiotherapy methods. Permanent treatment methods for the disease are currently being investigated.