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Batten disease, NCLs, Types, Tests, Diagnosis and Treatments of NCLs

Table of Contents

  1. Batten disease
  2. Other forms of NCL?
  3. % age of affected people by NCL
  4.  How are NCLs inherited?
  5. Causes of Batten Disease and NCL
  6. How NCLs diagnosed?
  7. Treatment of NCLs

Batten disease

It is a fatal inherited disorder of nervous system typically in the childhood. The symptoms of batten disease start appearing between ages of 5 to 10 years. The most common symptom which can be seen at the earliest time is the successive decrease in the vision and problems related to seizures. Additionally changes in the personality such as stumbling can be seen. The affected individual may have mental impairment, worsen seizures, loss in weight, and weak motor skills. As the time passes the severity of the disease occurs in the form of blindness, bedridden and demented. It has inherited its name by the firs British pediatrician who explained it in 1903. It is referred to as group of disorders which are neuronal ceroid lipofudcinoses. Batten disease is categorized in to juveline form of NCL (JNCL).

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Other forms of NCL?

NCL has four main types, among them three of them originates in the early childhood while the other affects the adults. Symptoms are just like batten disease, but all of these appears at different ages and their progress also vary.

  • The first form is congenital NCL which is very rare and dangerous form of NCL. The new born babies are characterized by their small head i.e. microcephaly and have seizures. The die soon after their birth.
  • The second form is the infantile NCL appearing at the ae of 6 months to 2 years. It is also known as Santavuori-Haltia disease. The children with this disease have microcephaly and are fail to thrive.
    They have short muscles and sharp muscle contractions known as myoclonic jerks. Most of the individuals die before 5 years of age while few may survive for longer time.
  • The third one is the late infantile NCL starts appearing between ages of 2 to 4 years. It is also known as Jansky-Bielschowsky disease. The signs and symptoms include ataxia i.e. loss of muscle coordination and seizures leading to reduction in the response to drugs. The individuals don’t survive more than 12 years.
  • Last one is the adult NCL which start appearing before the age of 40 and is also called as Kufs disease. The symptoms are milder at the initial stage and become sever at the end. It doesn’t induce blindness. The death age varies from person to person and doesn’t shorten the individual’s life expectancy.

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% age of affected people by NCL

All forms of NCL including batten disease are relatively rare. According to one estimate every 2 to 4 individuals out of 1 million are suffering from this disease. The countries which are more affected by this disorders include: Sweden, Finland, Europe, Canada and Newfoundland.

 How are NCLs inherited?

Childhood NCLs are the common recessive disorder and occurs only when someone inherited the defective genes from both the parents. In that case when both parents inherit the affected gene then one out of four must have chances to develop NCL. Additionally one out of two individuals must inherit one of the defective gene. Those individuals having one defective gene are known as carriers.
Adult NCL may be recessive or sometime dominant autosomal disorder. In those individuals which have dominant autosomal disorder they must possess the NCL. So in that case no individuals are known to be carriers.

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Causes of Batten Disease and NCL

The common symptoms of batten disease and other forms of NCL are due to the buildup of lipofuscins in body tissues. These pigments are commonly made up of proteins and fats. The have got their name from two terms the lipo came from lipids while the pigments is given because the look like greenish in color when illuminated under the UV microscope. These pigments may build up in cells of body’s such as in brain, skin and eyes. These substance are mostly fond in those parts of cells which are known as lysosomes. Lysosome functions as the cleanser of the cells because they help you to get rid of all the things which are not desirable by the cells. The lipopigments due to batten disease and other forms of NCL may form distinctive shapes which can be easily viewed through the microscope.

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How NCLs diagnosed?

It is common observation that vision loss is the first sign and symptom of batten disease so it can be easily diagnosed and visualized during and eye test. The eye specialist can easily detect the loss that occur in the cells. After that the suspect must be referred to neurologist for further test. The other tests to diagnose the NCL may include: Blood urine tests, electroencephalogram or EEG, electrical studies of the eyes, skin or tissue sampling, MRI, measurement of enzyme analysis and DNA studies help to diagnose NCLs.

Treatment of NCLs

As for no real treatment is known which can completely reverse the symptoms of batten disease. But seizures can be easily reduced with anticonvulsant drugs. While other problems can be cured when they start appearing. Additionally physical and occupational therapy help you to retain body’s function as long as it can be functional able.

It has been observed that batten disease in children can be reduced if you are using diet which is rich in vitamin C and E and have lower contents of Vitamin A. But these treatments are not known to decrease the fatality rate.

You need to encourage the patients and families it will help to minimize the dementia and disability that is caused by the NCLs.

Research is being done to find out new methods to cope with the disease and special conferences are held throughout the world to make people aware of what is the outcomes of these disorders. All you can do is to care properly the individuals and support them to get rid of the symptoms so that they can enjoy the activities of life and don’t get discourage by the fact that they will be no longer with us these counselling must be done specially for those individuals who survive longer than others.

You can get more information from the following links

http://bdsra.org/what-is-batten-disease/

http://www.ninds.nih.gov/disorders/batten/detail_batten.htm

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