PATHOLOGY

PATHOLOGY MCQ

GENETICS AND DISEASE

Question [CLICK ON ANY CHOICE TO KNOW THE RIGHT ANSWER]
A human genetic disease caused by a dominant allele; characterized by uncontrollable body movements and degeneration of the nervous system; usually fatal 10 to 20 years after the onset of symptoms.
A
Huntington’s Disease
B
Chromosomal X disorder
C
Down’s Syndrome
D
Turner syndrome
Explanation: 

Detailed explanation-1: -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 wide impact on a person’s functional abilities and usually results in movement, thinking (cognitive) and psychiatric disorders.

Detailed explanation-2: -HD is caused by a mutation in the gene for a protein called huntingtin. The defect causes the building blocks of DNA called cytosine, adenine, and guanine (CAG) to repeat many more times than they normally do. Most people have fewer than 27 CAG repeats in their HD gene, so they are not at risk for the disease.

Detailed explanation-3: -Huntington disease (HD), a neurodegenerative autosomal dominant disorder, is characterized by involuntary choreatic movements with cognitive and behavioral disturbances.

Detailed explanation-4: -Huntington disease affects an estimated 3 to 7 per 100, 000 people of European ancestry. The disorder appears to be less common in some other populations, including people of Japanese, Chinese, and African descent.

Detailed explanation-5: -difficulty concentrating. memory lapses. depression – including low mood, a lack of interest in things, and feelings of hopelessness. stumbling and clumsiness. mood swings, such as irritability or aggressive behaviour.

There is 1 question to complete.