Niemann-Pick Disease

Niemann-Pick disease is a rare metabolic, autosomal recessive, genetic condition that impairs the body’s ability to metabolize fat within cells. This then results to cell malfunction and eventually, cell death. Symptoms related to the organs include enlargement of the liver and spleen and may cause reduced appetite, abdominal distension, and pain. The other organs affected include the brain, nerves, bone marrow, and lungs.

The symptoms include clumsiness, muscle contractions, abnormal eye movements, difficulty swallowing, sleep disturbances, and recurrent pneumonia.

This condition has three types:

*Type A mainly affects infants who show progressive brain diseases; hence, most of the affected children do not survive until puberty. * Type B usually occurs during late childhood and the symptoms are not linked with brain diseases; hence, most of the affected children survive into their adulthood. * Type C is rare; it affects the liver, spleen, lungs, and/or brain. However, the affected individuals may not manifest any symptoms until adulthood.

Unfortunately, Niemann-Pick disease has no cure. Those with mild to moderate type C may benefit from miglustat (Zavesca), a drug which was found to improve neurological symptoms. Physical therapy is also utilized to help enhance mobility,