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Chorea Huntington


Huntington’s disease is a genetic disorder affecting the central nervous system and which causes the progressive degeneration of brain cells. This leads to the degeneration of motor skills and cognitive abilities, as well as behavioral difficulties. This is a rare disease, affecting a mere 7 to 10 people in 100,000, and affecting men and women in equal measure. The therapy involves treating the symptoms of the disease.

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    Medical Professionals

Diagnosis

A number of tests need to be carried out in order to diagnose Huntington’s disease, particularly during the early stages of the disease.

The first step is to obtain a comprehensive overview of the family background 

By taking the typical symptoms into account, an experienced neurologist/psychiatrist can usually suspect Huntington’s disease if a family member from the patient is known to have had it.

The neurological examination

A diagnosis can be made without the need for additional testing through clinical findings and an anamnesis. In most cases however, imaging techniques such as computer tomography and MRIs are used to make a final diagnosis.

Neuropsychological test

Neuropsychological tests that test factors like mental performance can be used to judge the severity of the disease. However they tend to be unspecific. 

Gene test

Since 1993, Huntington’s disease can be accurately diagnosed using a gene test that only needs a small blood sample from the patient. Even healthy persons, who are at risk as a result of having a family member with Huntington’s disease, can be tested to see whether or not they have inherited the gene. 

Any individual who is considering genetic diagnosis should first seek professional support. 


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