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American doctor George Huntington first described the disorder in 1872. Huntington's disease is caused by a genetic defect on chromosome #4. The defect causes a part of DNA, called a CAG repeat, to occur many more times than it is supposed to. Nor...
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Huntington disease is caused by a change in the gene (an inherited unit which contains a code for a protein) of unknown function called huntingtin. The nucleotide codes (building blocks of genes arranged in a specific code that chemically form pro...
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Huntington disease is caused by a change in the gene (an inherited unit which contains a code for a protein) of unknown function called huntingtin. The nucleotide codes (building blocks of genes arranged in a specific code that chemically form pro...
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Diagnosis of HD begins with a detailed medical history, and a thorough physical and neurological exam. Family medical history is very important. Magnetic resonance imaging (MRI) or computed tomography scan (CT scan) imaging may be performed to loo...
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Some neurological changes have been seen in HD. However, the connection of many of these changes to the disease's symptoms is still not understood. Atrophy of the basal ganglia and corpus striatum are common neurological findings in HD, which may ...
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Conditions with a link to the individual ' s genetic make-up. Genetic disorders are conditions that can be traced to an individual ' s heredity.
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The traditional method used to study an inherited disease is to observe the pattern of its distribution in families through examination of a pedigree, the construction of which begins with the individual first known to have the disease. The pedigree pattern allows one to judge whether or not the distribution conforms to Mendelian principles of segregation and assortment, and thus represents single-factor inheritance.
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Variations within the DNA sequence of a particular gene affect its function and may cause or predispose an individual a particular disease. Alterations in the genome may increase the frequency of disorder and disease with entire populations.
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Variations within the DNA sequence of a particular gene affect its function, and may cause or predispose an individual a particular disease. Alterations in the genome may increase the frequency of disorder and disease with entire populations.
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Any unusual variation or abnormality in the shape, structure, and/or function of an organ, body part, or tissue is commonly referred to as a birth defect. However, congenital anomaly is the more accurate and preferred term, since birth defect can be misinterpreted to mean a defect produced by the birthing process.
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