Huntington's disease
Huntington's disease is a rare, inherited disease that causes the progressive breakdown (degeneration) of nerve cells in the brain. Huntington's disease has a broad impact on a person's functional abilities and usually results in movement, thinking (cognitive) and psychiatric disorders.
The most common psychiatric disorder associated with Huntington's disease is depression. This isn't simply a reaction to receiving a diagnosis of Huntington's disease. Instead, depression appears to occur because of injury to the brain and subsequent changes in brain function. Signs and symptoms may include:
•Feelings of irritability, sadness or apathy
•Social withdrawal
•Insomnia
•Fatigue and loss of energy
Frequent thoughts of death, dying or suicide
Adult-onset Huntington disease, the most common form of this disorder, usually appears in a person's thirties or forties. Early signs and symptoms can include irritability, depression, small involuntary movements, poor coordination, and trouble learning new information or making decisions. Many people with Huntington disease develop involuntary jerking or twitching movements known as chorea. As the disease progresses, these movements become more pronounced.
Affected individuals may have trouble walking, speaking, and swallowing. People with this disorder also experience changes in personality and a decline in thinking and reasoning abilities. Individuals with the adult-onset form of Huntington disease usually live about 15 to 20 years after signs and symptoms begin.
A less common form of Huntington disease known as the juvenile form begins in childhood or adolescence. It also involves movement problems and mental and emotional changes. Additional signs of the juvenile form include slow movements, clumsiness, frequent falling, rigidity, slurred speech, and drooling. School performance declines as thinking and reasoning abilities become impaired. Seizures occur in 30 percent to 50 percent of children with this condition.
Juvenile Huntington disease tends to progress more quickly than the adult-onset form; affected individuals usually live 10 to 15 years after signs and symptoms appear.
HD is typically inherited, although up to 10% of cases are due to a new mutation .The disease is caused by an autosomal dominant mutation in either of an individual's two copies of a gene called huntingtin . This means a child of an affected person typically has a 50% chance of inheriting the disease. The huntingtin gene provides the genetic information for a protein that is also called huntingtin.
Expansion of CAG ( cytosine-adenine -guanine ) triplet repeats in the gene coding for the huntingtin protein results in an abnormal protein, which gradually damages cells in the brain through mechanisms that are not yet fully understood.Diagnosis is by genetic testing, which can be carried out at any time, regardless of whether or not symptoms are present.
This fact raises several ethical debates: the age at which an individual is considered mature enough to choose testing; whether parents have the right to have their children tested; and managing confidentiality and disclosure of test results.
There is no cure for HD. Full-time care is required in the later stages of the disease. Treatments can relieve some symptoms and, in some, improve quality of life .The best evidence for treatment of the movement problems is with tetrabenazine .HD affects about 4 to 15 in 100,000 people of European descent. It is rare among Japanese, while the occurrence rate in Africa is unknown.The disease affects men and women equally.
Complications such as pneumonia, heart disease , and physical injury from falls reduce life expectancy. Suicide is the cause of death in about 9% of cases. Death typically occurs 15–20 years from when the disease was first detected.
~Promoting healthy living
Huntington's disease is a rare, inherited disease that causes the progressive breakdown (degeneration) of nerve cells in the brain. Huntington's disease has a broad impact on a person's functional abilities and usually results in movement, thinking (cognitive) and psychiatric disorders.
The most common psychiatric disorder associated with Huntington's disease is depression. This isn't simply a reaction to receiving a diagnosis of Huntington's disease. Instead, depression appears to occur because of injury to the brain and subsequent changes in brain function. Signs and symptoms may include:
•Feelings of irritability, sadness or apathy
•Social withdrawal
•Insomnia
•Fatigue and loss of energy
Frequent thoughts of death, dying or suicide
Adult-onset Huntington disease, the most common form of this disorder, usually appears in a person's thirties or forties. Early signs and symptoms can include irritability, depression, small involuntary movements, poor coordination, and trouble learning new information or making decisions. Many people with Huntington disease develop involuntary jerking or twitching movements known as chorea. As the disease progresses, these movements become more pronounced.
Affected individuals may have trouble walking, speaking, and swallowing. People with this disorder also experience changes in personality and a decline in thinking and reasoning abilities. Individuals with the adult-onset form of Huntington disease usually live about 15 to 20 years after signs and symptoms begin.
A less common form of Huntington disease known as the juvenile form begins in childhood or adolescence. It also involves movement problems and mental and emotional changes. Additional signs of the juvenile form include slow movements, clumsiness, frequent falling, rigidity, slurred speech, and drooling. School performance declines as thinking and reasoning abilities become impaired. Seizures occur in 30 percent to 50 percent of children with this condition.
Juvenile Huntington disease tends to progress more quickly than the adult-onset form; affected individuals usually live 10 to 15 years after signs and symptoms appear.
HD is typically inherited, although up to 10% of cases are due to a new mutation .The disease is caused by an autosomal dominant mutation in either of an individual's two copies of a gene called huntingtin . This means a child of an affected person typically has a 50% chance of inheriting the disease. The huntingtin gene provides the genetic information for a protein that is also called huntingtin.
Expansion of CAG ( cytosine-adenine -guanine ) triplet repeats in the gene coding for the huntingtin protein results in an abnormal protein, which gradually damages cells in the brain through mechanisms that are not yet fully understood.Diagnosis is by genetic testing, which can be carried out at any time, regardless of whether or not symptoms are present.
This fact raises several ethical debates: the age at which an individual is considered mature enough to choose testing; whether parents have the right to have their children tested; and managing confidentiality and disclosure of test results.
There is no cure for HD. Full-time care is required in the later stages of the disease. Treatments can relieve some symptoms and, in some, improve quality of life .The best evidence for treatment of the movement problems is with tetrabenazine .HD affects about 4 to 15 in 100,000 people of European descent. It is rare among Japanese, while the occurrence rate in Africa is unknown.The disease affects men and women equally.
Complications such as pneumonia, heart disease , and physical injury from falls reduce life expectancy. Suicide is the cause of death in about 9% of cases. Death typically occurs 15–20 years from when the disease was first detected.
~Promoting healthy living
Nice one
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