A rare hereditary and progressive degenerative disease of the central nervous system (CNS) transmitted as an autosomal dominant trait. Onset is typically in middle adult life with involuntary movements of the face, hands, and shoulders. These movements become more pronounced and often result in a massive jerkiness of the limbs, facial muscles, and diaphragm. Progressive dementia typically parallels the movement disorder and results in profound functional impairment. Psychosis and depression are common psychiatric disorders that develop in this condition.
Onset is in adult life and is characterized by random movements (lurching, jerking) of the entire body. May include progressive mental deterioration and psychosis.
A rare and fatal hereditary disorder characterized by severe and progressive mental deterioration, muscular spasms, and psychotic behavior.
An autosomal dominant genetic disease.
A progressive hereditary disease which affects adults, where the outer layer of the brain degenerates and the person makes involuntary jerky movements and develops progressive dementia.
Huntington’s chorea (HC), also referred to as Huntington’s disease, is an autosomal dominant disorder that causes deterioration of the central nervous system, in particular, the basal ganglia. HC has a 100% penetrance, and offspring have a 50-50 chance of developing the disease. Huntington’s is characterized by repetitive rapid jerking of the face, trunk, and limbs. The chorea can be unilateral or bilateral and can move from one side of the body to another. The motions are involuntary but can be incorporated into voluntary movements to provide a disguise.
Abnormal hereditary condition (autosomal dominant disease) characterized by progressive chorea (involuntary rapid, jerky motions) and mental deterioration, leading to dementia. Symptoms usually first appear in the third or fourth decade of life and progress to death, often within 15 years.
A hereditary disease of the central nervous system characterized by bizarre involuntary movements and progressive dementia.
Also known as Huntington disease, a progressive brain disease involving degeneration of nerve cells in the cerebrum. “Chorea” is from the Greek word for “dance” and refers to the involuntary, uncontrollable movements characteristic of the disease. These include facial grimacing and quick jerking and flinging movements of the body. The other primary characteristics of Huntington chorea are progressive mental deterioration, including the loss of cognitive functions, such as judgment and speech, and personality changes. Diagnosis is made by genetic testing, MRI (magnetic resonance imaging) findings of wasting (atrophy) in a specific part of the brain, and clinical examination. Medication may lessen the symptoms of Huntington chorea, but there is no treatment for the mental deterioration. Most affected people eventually require institutional care.
A hereditary disease characterized by involuntary movements and dementia. Each child of a parent with the disease has a 50:50 chance of also developing it. Onset is most common between the ages of 35 and 45, but 10 per cent of cases occur under the age of 20. Some patients show more severe mental disturbance; others more severe disturbances of movement; but in all it pursues an inexorable downward course over a period of 10—20 years to a terminal state of physical and mental helplessness. It is estimated that there are around 6,000 cases in Britain. The defective gene is located on chromosome no. 4 so genetic screening is possible for those at risk. People with Huntington’s chorea and their relatives can obtain help and guidance from Huntington’s Disease Association.
A disease of humans, in which a defective gene causes the production of a (mutant) protein that kills brain cells. That gene was discovered in 1 994 by an international collaboration of scientists that included Francis Collins (University of Michigan), David Housman (Massachusetts Institute of Technology), John Wasmuth (University of California), Hans Lehrach (Imperial Research Cancer Fund in London), Peter Harper (University of Wales) and Gusella and colleagues (Massachusetts General Hospital). Normally, the “Huntington’s gene” contains the three base molecules cytosineadenine-guanine (abbreviated: GAG) in a linear repetition of approximately 10-20 times within the DNA of that gene. In a mutant (defective) Huntington’s gene, that cytosine-adenine-guanine sequence is instead found in a linear repetition of far greater length than the normal 10-20 times. Thus, the mutant Huntington’s gene is far larger than the normal gene; and this enlargement apparently causes the mutant protein to be produced that kills brain cells.
In the realm of human anatomy, there exists a prominent elongated bone located in the upper arm. This bone spans the distance from the shoulder blade to the elbow joint, playing a vital role in the structure and function of the upper limb. Referred to as the humerus, it serves as a fundamental support and facilitates a wide range of movements, contributing to the mobility and agility of the arm.
Huntington’s disease is a relatively rare condition that results in the deterioration of basal ganglia, which are paired clusters of nerve cells in the brain. The disease stems from a faulty gene and follows an autosomal dominant inheritance pattern.
Huntington’s disease symptoms typically begin to manifest between the ages of 35 and 50, though they can sometimes appear during childhood. The primary symptoms are chorea, characterized by rapid, jerky, involuntary movements, and progressive mental impairment, also known as dementia. Chorea usually impacts the face, arms, and trunk, causing random grimaces, twitches, and clumsiness. The dementia manifests as irritability, personality and behavioural changes – which may include episodes of aggressive, antisocial behaviour – memory loss (especially affecting short-term memory), and apathy. The disease advances gradually, with those affected usually surviving around 10 to 20 years after symptom onset.
Currently, there’s no cure for Huntington’s disease. The main goal of treatment is to alleviate symptoms using medications, such as antipsychotic drugs, which may help control abnormal muscle movements. Speech and occupational therapies could also be beneficial. Genetic testing is available for those who have relatives afflicted by the condition. However, since there isn’t an effective treatment for Huntington’s disease, this could pose challenging ethical dilemmas.
An adult manifestation of St. Vitus’s dance; this is a rare condition with symptoms nearly identical to typical rheumatic chorea, including involuntary movements, lack of coordination, paralysis, and slow, slurred speech. It typically emerges in adulthood, usually around the age of 40, and is accompanied by gradual cognitive decline, marked by delusions and a predisposition to suicidal tendencies. Periods of manic behavior are not unusual. The disease advances slowly, ultimately leading to a fatal outcome within a span of five to thirty years, and medical interventions have no discernible effect. This condition appears to have a hereditary nature, with a propensity for passing from one generation to the next.