Huntington's Disease Research Paper
A profile of
HUNTINGTON 'S
DISEASE
Huntington 's disease is an inherited degenerative neurological disease that leads to dementia. It is a disorder of the basal ganglia causing progressive motor incoordination, abnormal involuntary movements (chorea), and intellectual decline.
Clinical features and Symptoms:
Huntington 's disease usually causes movement, cognitive and psychiatric disorders with a wide spectrum of signs and symptoms. Which symptoms appear first varies greatly among affected people. During the course of the disease, some disorders appear to be more dominant or have a greater effect on functional ability. The disease begins insidiously with restlessness, choreiform
(dancelike) movements, and personality …show more content…
The rate of disease progression and duration varies. The time from disease onset to death is often about 10 to 30 years. Juvenile onset usually results in death in fewer than 15 years. Death frequently results from secondary causes such as pneumonia( or other infections), injuries related to falls and complications due to inability to swallow. About 10% of those affected have a rigid form of the disease in which choreiform movements are less prominent, and stiffness and
slowness of movement and abnormal posturing (dystonia) are the dominant features. This variety is more likely to occur when the disease begins before the age of 20 years.
Therapy is merely supportive: no medications significantly affect the course of the disease or functional capacity of the sufferer. Depression or psychosis, however, can be temporarily alleviated by antidepressant and antipsychotic medications. A progressive intellectual decline is usually observed, but even in the late stages of the disease, patients can often recognize family members and interact with other people to a limited extent.
Gene …show more content…
Inheritance of the disease:
Huntington 's disease is a rare disorder that affects approximately five to ten of every 100,000 persons. Inherited as an autosomal dominant mendelian trait, which means one copy of the altered gene in each cell is sufficient to cause the disorder. An affected person usually inherits the altered gene from one affected parent. In rare cases, an individual with Huntington disease does not have a parent with the disorder, such an occurrence may be the result of a genetic mutation that happened during the fathers sperm development. As the altered gene is passed from one
generation to the next, the size of the CAG trinucleotide repeat often increases in size. A larger number of repeats is usually associated with an earlier onset of signs and symptoms. This phenomenon is called anticipation. People with the adult-onset form of Huntington disease typically have 40 to 50 CAG repeats in the HTT(IT15) gene, while people with the early-onset form of the disorder tend to have more than 60 CAG repeats. Individuals who have 27 to 35
CAG repeats in the HTT(IT15) gene do not develop Huntington disease, but they are at risk
HUNTINGTON 'S
DISEASE
Huntington 's disease is an inherited degenerative neurological disease that leads to dementia. It is a disorder of the basal ganglia causing progressive motor incoordination, abnormal involuntary movements (chorea), and intellectual decline.
Clinical features and Symptoms:
Huntington 's disease usually causes movement, cognitive and psychiatric disorders with a wide spectrum of signs and symptoms. Which symptoms appear first varies greatly among affected people. During the course of the disease, some disorders appear to be more dominant or have a greater effect on functional ability. The disease begins insidiously with restlessness, choreiform
(dancelike) movements, and personality …show more content…
The rate of disease progression and duration varies. The time from disease onset to death is often about 10 to 30 years. Juvenile onset usually results in death in fewer than 15 years. Death frequently results from secondary causes such as pneumonia( or other infections), injuries related to falls and complications due to inability to swallow. About 10% of those affected have a rigid form of the disease in which choreiform movements are less prominent, and stiffness and
slowness of movement and abnormal posturing (dystonia) are the dominant features. This variety is more likely to occur when the disease begins before the age of 20 years.
Therapy is merely supportive: no medications significantly affect the course of the disease or functional capacity of the sufferer. Depression or psychosis, however, can be temporarily alleviated by antidepressant and antipsychotic medications. A progressive intellectual decline is usually observed, but even in the late stages of the disease, patients can often recognize family members and interact with other people to a limited extent.
Gene …show more content…
Inheritance of the disease:
Huntington 's disease is a rare disorder that affects approximately five to ten of every 100,000 persons. Inherited as an autosomal dominant mendelian trait, which means one copy of the altered gene in each cell is sufficient to cause the disorder. An affected person usually inherits the altered gene from one affected parent. In rare cases, an individual with Huntington disease does not have a parent with the disorder, such an occurrence may be the result of a genetic mutation that happened during the fathers sperm development. As the altered gene is passed from one
generation to the next, the size of the CAG trinucleotide repeat often increases in size. A larger number of repeats is usually associated with an earlier onset of signs and symptoms. This phenomenon is called anticipation. People with the adult-onset form of Huntington disease typically have 40 to 50 CAG repeats in the HTT(IT15) gene, while people with the early-onset form of the disorder tend to have more than 60 CAG repeats. Individuals who have 27 to 35
CAG repeats in the HTT(IT15) gene do not develop Huntington disease, but they are at risk