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About Huntington's Disease

Huntington’s Disease, previously known as Huntington’s Chorea and now often referred to as HD, is a hereditary disease involving a disorder of the central nervous system that was first documented by Dr. George Huntington in the latter nineteenth century. All races and ethnicities may be affected. Symptoms generally develop in middle age but have been known to occur in younger or older people. It is estimated that one in 10,000 Americans has HD, and the Foundation has already identified over twenty Huntington’s individuals and families in our local area.

In 1993, a mutated gene on Chromosome 4, inherited from only one parent, was found to be the cause of HD. In a fashion not yet fully understood, the faulty gene leads to damage of the nerve cells in those areas of the brain which involve emotion, intellect and movement. Progressive HD in its later stages involves loss of control over all bodily functions, leading to total reliance upon others for care. Over the course of ten to thirty years, HD becomes fatal due to complications such as heart failure.

As the disease progresses, afflicted individuals can experience a variety of symptoms, including constant involuntary motor movements, difficulties with speech and swallowing, weight loss, depression and, particularly in younger sufferers, emotional mood swings resulting in irritability, frustration and inflexibility. Because of dwindling cognitive abilities, the inability to concentrate, difficulty with multi-tasking and organizational skills, the individual affected with HD may be perceived as lazy or lacking initiative.

While research continues in the prediction, diagnosis, treatment and prevention of HD, currently there is no cure. Diagnosis is based on medical history, physical and neurological examination, DNA blood testing and diagnostic laboratory testing such as MRI and CT scan. Current treatment alternatives are aimed at reducing symptoms through nutrition, exercise, medication, alternative therapies, and providing physical assistance and emotional support to the HD patient.

Children of a parent diagnosed with HD have a 50% chance of inheriting the faulty gene and developing the disease at some point in their life. At-risk individuals who want to have children should seek genetic counseling to determine their safest options.

 

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