What is Huntington disease?

Huntington disease is a genetic disorder of the central nervous system. This disease was earlier known as Chorea, derived from the word Choreography because the disease is characterized by involuntary but jerky movements in the later stages. Huntington disease or HD is caused by degeneration of nerve cells in certain areas of the brain.

This degeneration usually takes place due to genetic factors. It is caused by accumulation of a faulty protein (huntingtin) in brain cells or neurons. This accumulation in turn causes deterioration of brain cells thereby resulting in malfunctioning.

Children of parents with Huntington disease have a 50% probability of inheriting the abnormal gene causing this disease. Hence, this disease is also referred to as an autosomal dominant disorder. In some cases, Huntington disease may also develop due to new genetic mutation without prior genetic predisposition, that is, without the presence of hereditary factors. Such cases are referred to as sporadic.

It has been observed that Huntington disease spreads more progressively in individuals who develop its symptoms at an early age, that is, before 20 years of age. Such cases are known as Early Onset or Juvenile Huntington disease. Generally, the symptoms of Adult Onset Huntington disease begin to show in the middle age.

Signs and Symptoms of Huntington disease

Huntington disease tends to affect the motor as well as cognitive functions of the patient adversely. The signs and symptoms of this disease vary from one individual to another. Some early symptoms of Huntington disease are mood swings, irritability, depression, uncontrolled movements etc.

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Early Onset Huntington disease may be accompanied by additional symptoms like clumsiness, slow movements, drooling, slurred speech and other similar problems. With the passage of time, this disease may progress further to cause problems in simple activities like driving, speaking, walking, swallowing and so on.

Changes in the cognitive abilities may cause loss of memory, disorientation, decreased concentration, loss of initiative, personality changes and affect the thinking and reasoning abilities.

Other physical symptoms include loss of coordination and balance, jaw clenching, development of tics in the form of involuntary movements in the face, feet, fingers or torso. Due to jerky movements and muscle contractions, the muscles may eventually become rigid.

Apart from the general emotional symptoms like depression, disinterest, stubbornness, anxiety, irritability etc, the later stages of this disease may also be characterized by serious psychotic symptoms like hallucination, delusion, paranoia and other related behavioral disorders.

Diagnosis and Treatment of Huntington disease

The diagnosis of Huntington disease can be of three types, that is, Prenatal Testing, Pre symptomatic Testing and Confirmatory Testing. Psychiatric evaluation and genetic testing help to diagnose this disease effectively. CT scans and MRIs may also be needed in order to rule out the possibility of other brain disorders.

At present, there is no specific cure to treat Huntington disease. The conventional medicines and home remedies can only help in dealing with the symptoms of this disease. Proper counseling, spiritual and psychosocial support and certain lifestyle changes can also help in coping with this devastating disease.

Health support therapies like speech therapy, physical occupational therapy etc can also prove to be beneficial in this regard.

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