Genetics: Huntington's Disease

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Huntington’s Disease Huntington’s disease is a hereditary disorder affecting the central nervous system. It usually presents with abnormal movements, psychiatric symptoms, and cognitive dysfunction. It is a rare disease that manifests only in 5-10 individuals in every 100,000 Caucasians, with much lower prevalence among Asian and other populations (Roos 1).


Motor symptoms manifest as involuntary and unwanted movements, which are called tics. These tics usually begin in the fingers and toes, but may also involve the muscles of the face. To other people, they can appear as nervousness. These tics gradually involve other muscles until they become big, abnormal movements called chorea. Patients eventually develop slowness in movement and difficulty initiating movements. Walking becomes drunk-like. This interferes with work and daily living, as patients become prone to falling and can no longer carry out their usual activities such as dressing and cooking (Roos 2). Behavior and psychiatric symptoms usually present early on in the disease, even before onset of motor signs. Irritability is usually the earliest sign, but only thought of in retrospect. The most frequently occurring symptom is depression. A study showed that 3 in 1000 individuals with major depression were found to carry an expanded huntingtin gene CAG allele. These patients suffering from depression were predicted to eventually develop full-blown Huntington’s disease (Perlis et al. 578). Apart from depression, patients may develop low self-esteem, guilt feelings, and anxiety. Patients may even commit suicide, with the likelihood higher among patients with early onset of the disease (Roos 2). ...
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