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What kind of disease is Friedreich’s Ataxia (FRDA), that was recently seen in news?
Cardiovascular disease
Genetic disorder
Autoimmune disease
Respiratory disease
Genetic disorder
Friedreich's Ataxia (FRDA) is identified as a rare genetic disorder caused by mutations in the FXN gene.
Friedreich's Ataxia is a progressive, neurodegenerative disorder that impacts the nervous system and heart functionality. The condition arises from abnormalities in the FXN gene, which is responsible for producing the protein frataxin, vital for mitochondrial energy production. Recent scientific research has traced the evolutionary history of these mutations back to Europe and Western Asia roughly 9,000 years ago. It is classified as a recessive genetic disorder, requiring two defective copies of the gene, one from each parent, for the disease to manifest.
Disease Type: Rare, autosomal recessive genetic disorder
Affected Gene: FXN gene (responsible for frataxin protein production)
Common Onset: Usually presents between 5 to 15 years of age
Evolutionary Origin: Protomutations traced to Eurasia approximately 9,000 years ago
B is correct — Friedreich's Ataxia (FRDA) is a rare genetic disorder triggered by mutations in the FXN gene which leads to progressive damage to the nervous system and heart.
Remember that Ataxia refers to a lack of muscle coordination; link it to 'Genetic' to avoid confusing it with 'Autoimmune' conditions, as it is strictly hereditary.
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