Batten Disease

Batten disease is a fatal, inherited disorder of the nervous system that begins in childhood. In some cases, the early signs are subtle, taking the form of personality and behavior changes, slow learning, clumsiness, or stumbling. Symptoms of Batten disease ...1

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Symptoms of Batten Disease

Batten disease is a fatal, inherited disorder of the nervous system that begins in childhood. In some cases, the early signs are subtle, taking the form of personality and behavior changes, slow learning, clumsiness, or stumbling. Because vision loss is ...2

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Causes of Batten Disease

Symptoms of Batten disease are linked to a buildup of substances called lipopigments in the body's tissues. Lipopigments are made up of fats and proteins. ...Source: NINDS (NIH)3 ...

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Causes List for Batten Disease

Some possible causes of Batten Disease or similar disorders may include:4

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Types of Batten Disease

Some types of this condition may include:5 Types of Batten disease:

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Diagnosis of Batten Disease

Because vision loss is often an early sign, Batten disease may be first suspected during an eye exam. Often, an eye specialist or other physician may refer the child to a neurologist. Diagnostic tests for Batten disease include blood or ...6

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Genetics of Batten Disease

How are NCLs inherited? Childhood NCLs are autosomal recessive disorders; that is, they occur only when a child inherits two copies of the defective gene, one from each parent. When both parents carry one defective gene, each of their children ...7

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Risk Factors for Batten Disease

These disorders appear to be more common in Finland, Sweden, other parts of northern Europe, and Newfoundland, Canada. Although NCLs are classified as rare diseases, they often strike more than one person in families that carry the defective genes. Source ...8

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Treatments: Batten Disease

Is there any treatment? As yet, no specific treatment is known that can halt or reverse the symptoms of Batten disease. However, seizures can sometimes be reduced or controlled with anticonvulsant drugs, and other medical problems can be treated appropriately ...9

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Research for Batten Disease

What research is being done? The biochemical defects that underlie several NCLs have recently been discovered. An enzyme called palmitoyl-protein thioesterase has been shown to be insufficiently active in the infantile form of Batten disease (this condition is now ...10

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Names and Terminology

Also known as Spielmeyer-Vogt-Sjogren-Batten disease, it is the most common form of a group of disorders called the neuronal ceroid lipofuscinoses, or ...11

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References

  1. Source: NINDS (NIH): ninds.nih.gov/ disorders/ batten/ batten.htm
  2. ibid.
  3. ibid.
  4. Source: Algorithmically Generated List
  5. Source: NCI Thesaurus
  6. Source: NINDS (NIH): ninds.nih.gov/ disorders/ batten/ batten.htm
  7. Source: NINDS (NIH): ninds.nih.gov/ disorders/ batten/ detail_batten.htm
  8. ibid.
  9. Source: NINDS (NIH): ninds.nih.gov/ disorders/ batten/ batten.htm
  10. ibid.
  11. Source: NINDS (NIH): ninds.nih.gov/ disorders/ batten/ detail_batten.htm

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