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Which of the following is a genetic neuromuscular disorder characterized by the gradual onset of jerky, uncontrollable movements?

Correct option is B

Huntington's Disease is a genetic neuromuscular disorder caused by a mutation in the HTT gene, which leads to the progressive degeneration of nerve cells in the brain. It is characterized by:

• Jerky, uncontrollable movements (chorea),

• Gradual loss of motor control,

• Cognitive decline, and

• Psychiatric symptoms like depression and irritability.

The disease typically manifests in adulthood and worsens over time, leading to severe disability.

Information Booster

Key Features of Huntington’s Disease:

• Inheritance: It follows an autosomal dominant inheritance pattern. A child of an affected parent has a 50% chance of inheriting the disorder.

• Symptoms: Include chorea (involuntary, jerky movements), loss of coordination, memory impairment, and behavioral changes.

• Diagnosis: Genetic testing can confirm the presence of the mutation in the HTT gene.

• Management: While there is no cure, symptomatic treatments (e.g., medications for movement disorders and mood changes) and supportive care improve quality of life.

Additional Knowledge

1. Option (1) Phenylketonuria:Phenylketonuria (PKU) is a rare genetic metabolic disorder caused by the inability of the body to metabolize an amino acid called phenylalanine, which is found in many protein-containing foods. This condition occurs due to a deficiency of the enzyme phenylalanine hydroxylase (PAH). Without this enzyme, phenylalanine accumulates in the blood and can cause serious health problems, particularly for the brain.

2. Option (3) Mitosis: Incorrect. Mitosis is the biological process of cell division

3. Option (4) Korsakoff’s Syndrome: Korsakoff’s Syndrome is a neurological disorder caused by thiamine deficiency, often linked to chronic alcoholism, and is characterized by severe memory impairment.