Niemann-Pick Disease
Niemann-Pick disease is an inherited, life-threatening metabolic disorder caused by a defect in the body's ability to breakdown and use certain lipids. It affects many organs and systems of the body, leading to a range of physical and neurological problems. As a result, affected individuals may suffer from difficulty breathing, impaired movements, muscle weakness, difficulty feeding, seizures, cognitive delays and premature death. Treatment is focused towards managing the symptoms, although research into potential therapies is ongoing. Early diagnosis and intervention is important for optimizing the outcomes for individuals with this disease.
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