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Enfermedad de Huntington - Enfermedades Cerebrales, Medulares y Nerviosas - Manual MSD Versión para Público General - Es.en
Enfermedad de Huntington - Enfermedades Cerebrales, Medulares y Nerviosas - Manual MSD Versión para Público General - Es.en
com
5/23/23, 5:13 PM Huntington's Disease - Brain, Spinal Cord, and Nerve Disorders - MSD Manual Consumer Version
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General public version
Huntington's disease
(Huntington's Disease; Huntington's Chorea; Chronic Progressive Chorea; Hereditary
Chorea)
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5/23/23, 5:13 PM Huntington's Disease - Brain, Spinal Cord, and Nerve Disorders - MSD Manual Consumer Version
Huntington's disease is an inherited disorder that begins with sporadic twitching or twitching and then progresses to more
pronounced involuntary movements (chorea and athetosis), mental decline, and death.
In Huntington's disease, degeneration occurs in the parts of the brain that coordinate and facilitate movement.
Movements become jerky and uncoordinated, and mental function, including self-control and memory, deteriorates.
Diagnosis is based on symptoms, family history, brain imaging, and genetic testing.
Drugs help relieve symptoms, but the disorder is progressive and fatal.
Huntington's disease affects a percentage of the population ranging from 1 to 10 in 100,000 people. The number of people
affected varies depending on where in the world they live. This affects both sexes equally.
The Huntington's disease gene isdominant . Therefore, a single copy of the abnormal gene, inherited from one parent, is
enough to cause the disease. Therefore, the children of someone affected by Huntington's disease have a 50% chance of
developing it.
Huntington's disease is caused by the gradual degeneration of parts of the basal ganglia called the caudate nucleus and putamen.
The basal ganglia are collections of neurons located at the base of the brain, deep within the brain. They help smooth and
coordinate movements.
The basal ganglia are collections of neurons that are located deep within the brain. The following are included:
putamen
subthalamic nucleus
black substance
The basal ganglia help initiate and smooth muscle movements, suppress involuntary movements, and coordinate postural
changes.
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two.
The symptoms of Huntington's disease usually appear in subtle ways, usually beginning between the ages of 35 and 40, but
sometimes before adulthood.
During the early stages of Huntington's disease, the face, trunk, and extremities may move involuntarily and rapidly. At first,
those affected can combine involuntary abnormal movements with intentional ones, so that the abnormal movements are
hardly noticeable. However, over time, the movements become more apparent.
Muscles may twitch briefly and rapidly, causing the arms or other body parts to jerk suddenly, sometimes several times in a row.
Those affected walk harmoniously or exaggeratedly graceful, like a puppet. They make faces, wave their limbs, and blink more
frequently. Movements become uncoordinated and slow. Eventually, the entire body is affected, making walking, sitting still, eating,
talking, swallowing, and dressing very difficult.
Mental disturbances frequently appear before or at the same time as abnormal movements. These changes at first are subtle.
People gradually become irritable, excitable, and agitated. Loss of interest in usual activities. You are also unable to control
your impulses, you lose patience, phases of discouragement appear or you become promiscuous.
As Huntington's disease progresses, the affected person may behave irresponsibly and often wander aimlessly. Over the years,
memory and the ability to think rationally are often lost. Severe depression and suicide attempts are also possible. The affected
person may also present anxiety orobsessive-compulsive disorder .
In the advanced stages of the disease, dementia is severe and those affected are confined to bed. Full-time assistance or a
nursing home is needed. Death typically occurs 13 to 15 years after the onset of symptoms.
Huntington's disease is difficult to recognize in its early stages because the symptoms are subtle. Depending on the symptoms and
family history, it is possible to detect the disease. If family members have had mental problems or have been diagnosed with a
neurological disorder (such asParkinson's disease) or a psychiatric disorder
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5/23/23, 5:13 PM Huntington's Disease - Brain, Spinal Cord, and Nerve Disorders - MSD Manual Consumer Version
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(asschizophrenia ), the doctor should be informed, as they may have had undiagnosed Huntington's disease.
acomputed tomography (TC) or anuclear magnetic resonance (MRI) to verify the existence of degeneration of the basal ganglia and
other areas of the brain that are usually affected by the disease, as well as to rule out other disorders.
Genetic testing is done to confirm the diagnosis. Genetic counseling and testing is important for those with a family history of the
disease and no symptoms, because they are likely to have children before symptoms appear. In such cases, genetic counseling
should precede genetic testing. Referral is made to centers that have experience in handling the complex ethical and psychological
issues involved.
More information
The following is a resource in English that may be helpful. Please note that the MANUAL is not responsible for the content of
this resource.
Genetics Home Reference: Huntington's disease : This website describes Huntington's disease, explains its causes and how it is
inherited, and provides links to its diagnosis and treatment.
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