What is neuronal ceroid lipofuscinosis?
The term "neuronal ceroid lipofuscinosis" concerns the family of inherited neurodegenerative disorders that lead to death. Conditions may occur in infants, children and adults. Symptoms and life length differ depending on the type of disorder and age of the patient at the beginning.
These disorders occur when genetic mutations inhibit the production of certain enzymes that eliminate or reuse proteins in the brain. Lipopigments, which are composed of proteins and fats, accumulate in the body tissues. They are accumulated in nerve cells where they damage and destroy cell tissue.
neuronal cereoid lipofuscinosis disorders are autosomal recessive; In other words, the child must inherit two copies of the defective gene in order to create this condition. These diseases affect people of some ethnic environments more than others. People who are Turkish, Finnish, Czechoslovak, Pakistani or Indian heritage are at higher risk than people from other ethnicities.
These disorders are classified according to the age of ustupu. For example, Janansky-Bielschowski occurs in late childhood or early childhood. Patients develop epilepsy or seizures, lack of muscle coordination, loss of vision and mental decline.
Batten disease usually affects children aged 5-10 years. Children who have this disorder also suffer from loss of vision, seizures and cognitive damage. Jansky-Bielschowski and Batten are gradually getting worse and eventually lead to death, often early in adulthood. Children who develop symptoms of neuronal cereoid lipofuscinosis before they are 1 year old, rarely survived the first decade of life.
adults develop a version of neuronal cereoid lipofuscinosis called KUFS disease or Parry's disease. Symptoms are less severe than symptoms of line disease or Jansky-Bielschowski's disease. Adults develop many of the same symptoms as children such as coordinating problemsThe engine and seizures, but usually do not lose their view. Patients who develop in adulthood may predict a relatively normal life expectancy.
doctors diagnose neuronal ceroid lipofuscinosis disorders by performing various tests. They perform blood work to measure the enzyme levels in the body and monitor the levels of electrical activity in the brain by performing electroencephalogon tests (EEG). They can also perform tissue or skin biopsy, genetic tests or vision projection.
Since the beginning of 2011, there has been no treatment or specific treatment of neuronal ceroid lipofuscinosis. Doctors prescribe drug control medicines. Most patients with these disorders eventually become completely dependent on their carers, as the condition proceeds.