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 Rare diseases are medical conditions that affect a small portion of the population and often present complex symptoms. Examples include Huntington's disease, cystic fibrosis, and muscular dystrophy.

 Prevention strategies vary, but genetic counseling and testing, as well as early detection through newborn screening and regular check-ups, play key roles. Laboratory tests such as biochemical analysis, Hb electrophoresis, maternal marker study and genetic analysis can diagnose and monitor.