Huntington's Disease (Chorea)
Defined
Huntington's disease (HD) is a hereditary disorder of the central nervous system. It usually develops in adulthood and can cause a wide
range of symptoms affecting both men and women. Most people with HD develop signs and symptoms between the ages of 40-50,although the onset of the disease can be earlier or later in life. If the disease onset begins before age 20, the condition is called juvenile Huntington's disease. Juvenile HD often presents with different symptoms and faster disease progression.
range of symptoms affecting both men and women. Most people with HD develop signs and symptoms between the ages of 40-50,although the onset of the disease can be earlier or later in life. If the disease onset begins before age 20, the condition is called juvenile Huntington's disease. Juvenile HD often presents with different symptoms and faster disease progression.
Causes
Huntington's Disease is caused by a faulty gene on chromosome 4. The gene produces a protein called Huntingtin. HD causes movement, cognitive and psychiatric disorders with a wide spectrum of signs and symptoms. If a parent has the disease, their child has a 50% chance of inheriting the gene that causes the genetic disorder. In rare cases, about 6% of HD cases, one can develop HD without having a family history of the disease. This may be the result of a genetic mutation that could happen during the father's sperm development.
Symptoms
Movement Disorders-
Psychiatric Disorders-
Juvenile Huntington's Disease-
- Involuntary jerking or writhing movements (chorea)
- Involuntary, sustained contracture of muscles (dystonia)
- Muscle rigidity
- Slow, uncoordinated fine movements
- Slow or abnormal eye movements
- Impaired gait, posture and balance
- Difficulty with the physical production of speech
- Difficulty swallowing
Psychiatric Disorders-
- Feelings of sadness or unhappiness
- Loss of interest in normal activities
- Social withdrawal
- Insomnia or excessive sleeping
- Fatigue, tiredness and loss of energy
- Feelings of worthlessness or guilt
- Indecisiveness, distractibility and decreased concentration
- Frequent thoughts of death, dying or suicide
- Changes in appetite
- Reduced sex drive
- Obsessive-compulsive disorder, a condition marked by recurrent, intrusive thoughts and repetitive behaviors
- Mania, which can cause elevated mood, overactivity, impulsive behavior and inflated self-esteem
- Bipolar disorder, or alternating episodes of depression and mania
- Irritability
- Apathy
- Anxiety
- Sexual inhibition or inappropriate sexual behaviors
Juvenile Huntington's Disease-
- Loss of previously learned academic or physical skills
- Rapid, significant drop in overall school performance
- Behavioral problems
- Contracted and rigid muscles that affect gait (especially in young children)
- Changes in fine motor skills that might be noticeable in skills such as handwriting
- Tremors or slight involuntary movements
- Seizures
Complications
The time from disease onset to death in HD is usually about 10 to 30 years. Juvenile HD typically results in death in less than 15 years from onset. Eventually, individuals suffering from this disease will need help with all activities of daily living and care. In the late stages of the disease the individual's understanding of their surroundings and interactions with others will remain intact for a long time even though they will likely be confined to a bed and unable to speak.
Common causes of death include-
Common causes of death include-
- Pneumonia or other infections
- Injuries related to falls
- Complications related to the inability to swallow
- Suicide
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Compiled on 11/2012 by Meredith Preston