What is Huntington’s Disease:
Huntington’s Disease (HD) is a rare neurodegenerative disorder. This disorder is hereditary and is passed down from generation to generation, a child of a parent with HD has a 50 percent chance of inheriting the malfunctioning gene. In people with HD, a gene known as Huntingtin (HTT) located on chromosome 4 has the nucleotide sequence CAG (triplet). People who aren’t affected by Huntington’s Disease have a repeat of this triplet 10 to 35 times in a row while people who are affected by HD have this triplet repeated more than 36 times in a row. Studies have shown that when the gene is passed down from a father to a child, the gene may affect the individual more than when the gene is passed from a mother to a child. The reason behind this could possibly be that males are more affected by this disorder as compared to females. This disease is especially deadly because it affects the individual in their prime working years, possibly leading to financial difficulties.
Age of Onset:
The average age of onset for Huntington’s Disease is between the ages of 30 to 50. An individual who develops this disease before 20 years of age has what is known as juvenile Huntington’s disease. The age of onset for the symptoms varies depending on the repeats of the CAG triplet on chromosome 4. The more triplets there are, the earlier the age of onset there will be. This phenomenon is known as anticipation.
Symptoms:
Huntington’s Disease symptoms can be split into three main categories: motor, cognitive, and psychiatric.
Motor Symptoms:
Chorea: Involuntary body movements such as jerking and writhing
Dystonia: Involuntary muscle movements such as stiffness and rigidity
Speech difficulty
Difficulty in swallowing
Rapid weight loss
Cognitive Symptoms:
Loss of ability to plan, organize and focus
Lack of awareness on self behavior
Slow thought process
Lessened ability to learn new information
Forgetfulness
Decreased ability in judgement
Psychiatric Symptoms:
Depression
Suicidal thoughts
Insomnia: Inability to sleep
Personality changes
Juvenile Huntington’s Disease Symptoms:
Seizures
Stiff muscles in young children
Sudden decline in school performance
Changes in motor skills (typing, writing)
Inability to perform previously learned skills (running, solving simple math problems)
Treatment:
Currently, no treatment exists for the HD but medicines have been developed to help alleviate the symptoms. Along with medication, counseling is also beneficial for individuals dealing with this disorder. Physical therapy, psychotherapy, and speech therapy can also greatly improve the quality of life. From a medication standpoint, antipsychotic drugs as well as mood stabilizing drugs are common treatments. Antipsychotic drugs help suppress mood swings, agitation, and emotional outbursts. Mood stabilizing drugs help regulate fluctuating emotions. These treatments have been tested to help symptoms but do contain side effects such as nausea, vomiting, and may even lead to other movement disorders. Talk to your doctor before deciding on the right treatment for your loved one.
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