Huntington's Chorea Case Study

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Huntington’s Chorea, more commonly known as Huntington’s disease, is a progressive hereditary neurodegenerative disorder that presents in mid-life, affecting an individual’s cognitive, emotional and motor abilities (Warby, Graham, & Hayden, 2014). Huntington’s disease was named after an American Physician by the name of George Huntington, who first documented the disease in 1872. In his findings, he described the disease as Hereditary chorea. In Greek terminology, the word Chorea means “to dance” (Bhattacharyya, 2016). Over time, its name evolved to Chronic progressive chorea, but today, it is simply referred to as Huntington’s disease. (National Institute of Neurological Disorders and Stroke, 2016). Although George Huntington’s discovery of the disease was in 1872, it was not until 1993 that the exact gene causing …show more content…
During an assessment, the physician will look for very specific characteristics such as the body site distribution of presenting motor symptoms, possible ataxia, eye movement abnormalities, seizures, speed of progression and cognitive and behavioral features. Basic ancillary investigations, including routine blood tests, MRI’s and CT imaging scans of the brain provide additional information to the diagnostic work-up and should be performed prior to any genetic testing for Huntington’s disease (Martino, Stamelou, & Bhatia, 2012). One of the most conducive identifiers that a physician will look for in patients suspected of having the genetic abnormality is a gait disorder. A gait disorder is characterized by the inability to sustain posture, resulting in frequent falls and knee buckling. Without a complete family history, these indicators have the ability to provide the doctor with sufficient information to conclude a diagnosis (Martino et al.,

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