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HUNTINGTON’S DISEASE (HD)

Men's Health, Mental Health, Uncategorized, Women's Health / By

HUNTINGTON’S DISEASE (HD)

Huntington’s disease is an incurable hereditary brain disorder that results in the progressive degeneration of the brain cell.

  • The disorder has a great impact on a person functional ability and may affect movement, behaviour, and cognition.
  • Huntington’s effect about 4 to 15 in 100,000 people and most people develop symptoms in their 30s or 40s although the disease can emerge earlier or later in life.
  • The disease affects men and women equally and the time of disease emergence until death is about 10 to 30 years.
  • In juvenile HD, symptoms start before the age of 20. This accounts for 10% of the HD cases
  • The complications are usually fatal and may include pneumonia, heart disease and injuries related to falling.
  • The depression associated with Huntington’s disease may increase the risk of suicide. In about 9% of cases, the cause of death is suicide.
  • As the condition progresses, a person with the disorder may need help with all activities of daily living and care.
  • At the late stage of the disease, the sufferer may be confined to bed and may be unable to speak. However, they will understand most of what is been said and will be aware of friends and family.

CAUSES

Huntington’s disorder is a genetic disorder that is caused by a mutation in either of an individual’s two copies of a gene called huntingtin inherited in an autosomal dominant pattern.

The normal gene has three DNA bases, composed of the sequence CAG (cytosine, adenine, and guanine).in people with the disorder the sequence repeats itself several times leading to an excessive production of cytosine, adenine and guanine.  This change results in a larger form of huntingtin and is toxic as it accumulates and damages the cells in the brain

Each of us inherits our gene from our parents. These genes provide our body with instructions that influence our health, looks, and behavior. Each person inherits two copies of every gene, one from the father and one form the mother

The autosomal trait is one of the several ways that a trait disorder can be passed down through families

In an autosomal dominant disorder, only one copy of the defective gene is needed to be passed down from the parent before a person gets the disorder. Each child in the family therefore has a 50% chance of inheriting the gene that causes the disorder.

Symptoms

The condition results in movement, cognitive and psychiatric problems.

Problems with movement may include:

  • Jerky, random and uncontrollable movements called chorea
  • Slow saccadic eye movement
  • Rigidity, writhing motion, and abnormal posturing
  • The difficulty with the physical production of speech or swallowing
  • Stumbling

A cognitive problem associated with the condition may include:

  • Difficulty in learning new information
  • Loss of organization skill
  • Disorientation
  • Lack of flexibility or tendency to get stuck on a thought, action or behavior
  • Slowness in finding words or processing thoughts
  • Lack of awareness of one’s own behavior
  • Difficulty focusing
  • Problems with multitasking
  • Memory deficits that may include losing memory of the body of how to perform an activity, or memory of one’s life.
  • Inhibition of inappropriate activities such as sexual promiscuity, acting without thinking

The cognitive problem may worsen over time and lead to dementia.

A psychiatric problem associated with the condition may include:

  • Depression
  • Aggression
  • Anxiety
  • Feeling or irritability, sadness or apathy
  • Worsen addictions that may include gambling, alcoholism, hypersexuality
  • Social withdrawal
  • Insomnia
  • Fatigue and loss of energy
  • A reduced display of emotion
  • Frequent thoughts of death or suicide

DIAGNOSIS AND TREATMENT

Diagnosis will include a physical examination combined with a psychological examination. This can be used to determine whether the onset of the condition has begun.

The stage and length of progression can be measured using the unified Huntington’s disease rating scale, which provides an overall rating based on motor, behavioral, cognitive and functional assessment.

Imaging studies of the brain may be taken to reveal the presence of any structural changes at the particular site in the brain affected by the condition. The test may also be used to rule out other conditions. It may include a CT scan and MRI

Because the condition follows an autosomal pattern of inheritance, a blood test may be carried out to count the numbers of CAG repeats in the huntingtins alleles.

TREATMENT

No treatment can cure the disorder, but certain medications can lessen some symptoms of movement and psychiatric problems

Tetrabenazine and antipsychotic drugs such as haloperidol (Haldol) and chlorpromazine may help for movement disorders. Other medications may include amantadine, levetiracetam.

Antidepressants such as citalopram (Celexa), escitalopram (Lexapro), fluoxetine (Sarafem), antipsychotic drugs such as quetiapine (Seroquel), risperidone (Risperdal) and mood-stabilizing drugs can help with the psychiatric disorder

Psychotherapy, speech therapy, physical therapy and occupational therapy can help manage the condition.