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Huntington disease and Huntington symptoms
Huntington disease is a genetic neurodegenerative disorder that affects muscle coordination and leads to cognitive impairment and dementia. It usually becomes noticeable in middle age. HUNTINGTON DISEASE is the most common genetic cause of abnormal involuntary movements called chorea torque, and in fact the condition formerly known as Huntington disease.
It is much more common in people of European descent than in Western African and Asian descent. The disease is caused by an autosomal dominant mutation is an individual copy of a gene, Huntington disease, which means that any child of an affected parent has a 50% risk of inheriting the disease.
Huntington disease
In the rare cases where both parents have a copy in question, the risk increases to 75%, and when a parent has two copies involved, the risk is 100% (all children are affected).
The physical symptoms of Huntington disease can begin at any age from childhood to old age, but usually begin between 35 and 44. About 6% of cases start before the age of 21 with akinetic rigid syndrome, but faster progress and may vary slightly. The variant is classified as a variant juvenile akinetic rigid HUNTINGTON DISEASE or Westphal.
The Huntington disease gene normally provides the genetic information of a protein that is also called “Huntington disease”. The mutation in the Huntington disease gene codes for a different form of the protein, whose presence leads to progressive damage to specific areas of the brain. Exactly how this occurs is not fully understood.
Genetic testing can be performed at any stage of development, even before the onset of symptoms. This raises several ethical debates: at what age a person becomes mature enough to select tests, parents have the right to have their children tested, and managing the confidentiality and disclosure of test results. Genetic counseling has been developed to inform and help people to consider genetic testing and has become a model for other diseases genetically dominant.
The symptoms can vary between individuals and between members of the same family affected, but signs of progress expected for most people. The first symptoms are a general lack of coordination and an unsteady gait. As the disease progresses, uncoordinated movements, twitching of the body becomes more obvious with a decrease in mental and behavioral problems and psychiatric disorders. Physical abilities are gradually to prevent coordinated movement becomes very difficult. Read the rest of this entry »
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