Ceroid lipofuscinosis, neuronal

Below you will find more information about Ceroid lipofuscinosis, neuronal from Medigest. If you believe that you are suffering from any of the symptoms of Ceroid lipofuscinosis, neuronal it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Ceroid lipofuscinosis, neuronal and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Ceroid lipofuscinosis, neuronal comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

Definition

Ceroid lipofuscinosis, neuronal is also known as Batten Disease and Neuronal Ceroid Lipofuscinosis. The name constitutes a family of 8 or more different neurodegenerative disorders which occur when lipopigments called lipofuscin, accumulate in the body's tissues. Fats and proteins make up the lipopigments, and they can accumulate in cells of body parts including the brain, eyes, muscle, and skin. The disease is quite rare, although they can occur in more than one member in a family if they possess the defective gene. The disorder is autosomal recessive in nature; meaning that if a child acquires the disease, both his parents have the defective gene. Parents who carry one defective gene result in each child having a one in four chance of inheriting the disease. Each of them also has a one in two chance of inheriting a copy of the gene. In adults, the CLN may be autosomal recessive or autosomal dominant form of the disease.

Diagnosis

The disease can be diagnosed through eye tests early on, since vision loss is one of the earliest symptoms of the disease. An eye exam is just the initial stage in diagnosing the disease, because the eye exam alone cannot be conclusive of CLN. If the tests results show suspect CLN, the child then takes neurological exams to undergo several other procedures. The tests for diagnosing the disease include tissue or skin sampling, electroencephalogram, electrical studies of the eyes, brain scans, and enzyme assays.

Treatment

There is no known treatment that can abolish the disease. However, patients can receive medications to control occurrences of seizures as well as speech, physical, and occupational therapy.

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