Genetic Disorders

Poland syndrome: definition, symptoms and risk factors

Definition Poland syndrome is a disorder in which affected individuals are born with missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, shoulder, arm, and hand. The extent and severity of the abnormalities vary among affected individuals. History It was first …

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Gaucher Disease: causes, complications and treatment

Definition Gaucher (go-SHAY) disease is the result of a buildup of certain fatty substances in certain organs, particularly your spleen and liver. This causes these organs to enlarge and can affect their function. History It was in 1882 that a medical student in Paris called Philippe Gaucher first described in …

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Myotonic dystrophy: causes, treatment and prevention.

Definition Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body systems. People who have myotonic dystrophy have muscle wasting and weakness in their lower legs, hands, neck and face that get worse over time. Signs and symptoms of myotonic dystrophy usually develop when …

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