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End stage of huntington's disease

Huntington’s disease was named after Dr. George Huntington, who wrote about this inherited disease that causes the affected individuals to uncontrollably twist, squirm and writhe. However, this illness had been first described much earlier and known as “Chorea”.

Huntington’s Disease Introduction

Huntington’s disease (HD) is a hereditary neurodegenerative disorder that affects both mental and physical abilities. The cause of Huntington’s disease was identified in 1993, when scientists discovered that the disease occurs due to mutation in the gene, known as protein Huntington (HTT) located on chromosome 4. 

Huntington’s disease is inherited in autosomal dominant manner meaning that each child of an affected parent has 50% chance of inheriting the disease. Huntington’s disease affects about 30,000 people in the United States, while more than 150,000 individuals are at risk of developing the disorder.

HD equally affects both males and females and can be seen in all races and ethnic groups. Symptoms of the disease usually begin between 30 and 50 years of age although they may develop at any age from infancy to old age. Usually, the disorder progresses faster the earlier symptoms appear. In younger patient’s HD initially causes seizures and decline in school performance.

Signs and Symptoms of Huntington’s Disease

Initially, symptoms of HD vary from patient to patient. Early symptoms are typically subtle thus often ignored or misdiagnosed. At first, an affected individual exhibits mood swings and may become irritable, depressed, lethargic or angry. These symptoms may disappear in advanced stages of the disorder.

HD affects motor functions leading to clumsiness, poor coordination and balance, slurred speech and changes in handwriting. As the disorder progresses, the person displays difficulty concentrating and making decisions, loss of memory, trouble driving.  

Uncontrolled movements in the fingers, hands, feet, torso and face are characteristic early physical symptoms. These symptoms are known as writhing symptoms or “chorea” and they are typically aggravated by stress. However, in some cases chorea may not develop at all but a sufferer becomes rigid and unable to move. This is known as “akinesia”.

Diagnosis and Treatment of Huntington’s Disease

In order to diagnose HD, a doctor will perform genetic testing by taking a blood sample from a patient to send it for analysis. Additionally, the doctor will perform neurological exam and order head CT and MRI scans.

Huntington’s disease can not be cured but the treatment to control the symptoms exists.

There are several medications used in treatment of Huntington’s disease. An antipsychotic drug, haloperidol is prescribed to treat hallucinations, delusions and angry outbursts. Clonazepam is used to alleviate uncontrollable movements. Depression is treated with fluoxentine or nortiptyline while tranquilizers are given to manage anxiety. Lithium may be given to treat severe mood swings.

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