Niemann-Pick Disease: Symptoms & Signs

Medically Reviewed on 9/10/2019

Niemann-Pick disease is a genetic (inherited) form of lipid storage disease. A lipid storage disease is one in which abnormal fatty substances accumulate within body cells and cause damage to different organs and body systems. There are four types of Niemann-Pick disease.

Signs and symptoms of Niemann-Pick disease are related to the abnormal buildup of lipid within different organs. Associated symptoms include problems with coordination, eye movement problems, difficulty walking, trouble swallowing (dysphagia), poor muscle tone (dystonia), severe liver disease, speech problems, seizures, and interstitial lung disease.

Cause of Niemann-Pick disease

Genetic mutations inherited in an autosomal recessive pattern (meaning that two copies of the mutated gene are necessary to develop the condition) cause the condition. The parents of an individual with the condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Other niemann-pick disease symptoms and signs

  • Coordination Problems
  • Difficulty Walking
  • Eye Movement Problems
  • Interstitial Lung Disease
  • Poor Muscle Tone (Dystonia)
  • Seizures
  • Severe Liver Disease
  • Speech Problems
  • Trouble Swallowing (Dysphagia)

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Kasper, D.L., et al., eds. Harrison's Principles of Internal Medicine, 19th Ed. United States: McGraw-Hill Education, 2015.