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Huntington's disease is a hereditary disorder that is passed down from a parent to a child. It involves damage and degeneration of the nerve cells, particularly in the brain. The disease was first described and identified in 1872 by a doctor by the name of George Huntington. It was later found to be a defect in a gene on the chromosome 4. Part of the DNA forms a CAG repeat that is in excess of the CAG repeat we normally have. Normally there is a CAG repeat there of about 10-35 times. In Huntington's disease, the CAG repeat happens 36 to 120 times. It is an autosomal dominant disease in which an affected person passes the disease on to half of all offspring.
The CAG repeat number increases with each successive generation so that the disorder is seen in younger and younger individuals as the generations go onward. Eventually, it is passed down to a generation that is young enough not to pass the disorder onto subsequent generations and the disease process is stopped in that family (usually). Many people have children before they know they have the disease and pass it on to their children unknowingly.
There are two types of Huntington's disease. The usual type is adult-onset, which has an age of onset between the mid 30s and the mid 40s. This is past the usual childbearing age. There is an early form of the disease that affects younger individuals. It can occur as young as in childhood. It begins to look like Parkinson's disease, with the classic Parkinsonian features of rigidity and tremor. It later looks like classic Huntington's disease.
Symptoms of Huntington's disease include irritability, mood disorder, hallucinations, antisocial behavior, fidgeting, paranoia and psychosis. There are abnormal movements consisting of abnormal turning of the head, grimaces and other abnormal facial movements, chorea-like movements, jerking of the extremities, poor gait, loss of judgment and memory, changes in speech and personality and confusion or disorientation. There can be anxiety associated with Huntington's disease as well as problems swallowing and impairment in their speech. In children, they get slow choreiform movement as well as tremor and rigidity.
Evaluation of Huntington's chorea depends on a thorough history and physical examination. A positive family history is suspicious for Huntington's disease. Doctors will do a neurological examination, looking for evidence of abnormal movements, gait disturbances, abnormal reflexes, abnormal movements, and poor speech or hesitant speech. A CT scan of the head can show a loss of deep brain tissue. An MRI scan can do the same. A PET scan of the head can show where the brain is functioning and where it is not functioning. Doctors can also check the DNA on chromosome 4 to see if there are excessive numbers of CAG repeats.
There is no real treatment for Huntington's disease except for supportive measures. The disease as yet has no cure. There is treatment available that can slow the progression of the disease so the patient is kept as comfortable as is possible while the disease gradually progresses. Dopamine blockers can reduce the incidence of abnormal behaviors and unusual movements. Drugs like amantadine, haloperidol and tetrabenazine are used to control abnormal movements. Coenzyme Q can slow the disease progression. Antidepressants can be used to control depression and suicidality. Patient's with Huntington's disease need a lot of emotional and physical support by doctors, support groups and family members.
The prognosis of Huntington's disease is poor and is almost uniformly fatal after about 15 to 20 years post-onset. Death is often due to suicide or infection. The number of CAG repeats determines how severe the disease is and how soon a person gets the disease.
Complications include a lack of ability to care for oneself, the loss of ability to be social with other people, self-injury or injury to others, depression, increased infection risk and death after about twenty years.
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