Munson Health
 
Niemann-Pick Disease

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by Wood D
 

Symptoms

Symptoms of Niemann-Pick disease may develop during infancy, childhood, or the teen years, depending on the type of the disease. Symptoms vary. Not all patients will develop every symptom. Symptoms usually worsen over time.

Type A

Symptoms begin within the first few months of life. They may include:

Type B

Symptoms start during pre-teen years. They may include:
  • Yellow skin and eye coloration
  • Enlarged belly
  • Enlarged lymph nodes
  • Brittle bones
  • Breathing difficulties
  • Frequent respiratory infections

Types C and D

Symptoms may start in infancy, childhood, or teen years. They may include:
  • Yellow skin and eye coloration
  • Unsteady movement
  • Trouble walking
  • Difficulty swallowing
  • Unable to look up or down
  • Vision loss
  • Hearing loss
  • Slurred speech
  • Enlarged abdomen
  • Loss of motor skills
  • Difficulty swallowing
  • Learning problems
  • Tremors
  • Seizures
 

RESOURCES

National Institute of Neurological Disorders and Stroke
http://www.ninds.nih.gov

National Niemann-Pick Disease Foundation, Inc.
http://www.nnpdf.org

 

CANADIAN RESOURCES

Health Canada
http://www.hc-sc.gc.ca

National Niemann-Pick Disease Foundation
Canadian Chapter
http://www.nnpdf.ca

 

References


Niemann-Pick disease. Genetics Home Reference website. Available at: http://ghr.nlm.nih.gov/condition/niemann-pick-disease. Updated January 2008. Accessed August 9, 2013.


Niemann-Pick disease overview—types A, B, and C. National Niemann-Pick Disease Foundation, Inc. website. Available at: http://www.nnpdf.org/npdisease%5F01.html. Accessed August 9, 2013.


NINDS Niemann-Pick disease information page. National Institute of Neurological Disorders and Stroke website. Available at: http://www.ninds.nih.gov/disorders/niemann/niemann.htm. Updated October 6, 2011. Accessed August 9, 2013.

 

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