Question

Mention any two autosomal genetic disorders with their symptoms.

Answer 1

Here are two examples of autosomal genetic disorders with their symptoms:

1. Cystic Fibrosis: Cystic fibrosis is an autosomal recessive disorder that affects the respiratory, digestive and reproductive systems. It results from mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Symptoms include thick, sticky mucus in the lungs, recurrent lung infections, persistent cough, difficulty breathing, poor growth and weight gain, and digestive problems such as intestinal blockage, malabsorption, and pancreatitis.
2. Huntington's Disease: Huntington's disease is an autosomal dominant disorder that affects the nervous system. It results from a mutation in the huntingtin (HTT) gene. Symptoms include involuntary movements, difficulty with coordination, cognitive decline, mood changes, and personality changes. The disease usually begins in middle age, and symptoms gradually worsen over time, leading to severe disability and eventually death.