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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. |