Niemann Pick Disease Type C - NORD (National Organization for Rare Disorders) - niemann pick disease adult type


Niemann-Pick disease - Genetics Home Reference - NIH niemann pick disease adult type

Type A. There’s no known treatment for type A at this time. Supportive care is helpful for all types of Niemann-Pick disease. Type B. Several treatment options, including bone marrow transplants Author: Amber Erickson Gabbey.

Niemann-Pick disease is a condition that affects many body systems. It has a wide range of symptoms that vary in severity. Niemann-Pick disease is divided into four main types: type A, type B, type C1, and type C2. These types are classified on the basis of genetic cause and .

Jul 19, 2016 · Niemann-Pick disease type B is an inherited condition involving lipid metabolism. People with this condition experience a build up of lipids in the spleen, liver, lungs, bone marrow, and brain. Signs and symptoms typically develop in the pre-teen years and may include enlarged liver and spleen (hepatosplenomegaly), short stature, problems with lung function including frequent lung infections.

Apr 01, 2003 · Niemann-Pick disease type C (NPC) is an autosomal recessive neurometabolic disorder that rarely presents in adulthood, and is associated with cognitive decline, various movement disorders (ataxia, chorea, dystonia, and myoclonus), a vertical supranuclear gaze palsy (VSGP), and seizures. A recent case report demonstrated a delay in diagnosis of eight years when a patient with NPC Cited by: 87.

Niemann-Pick Type C (NP-C) is a rare inherited neurodegenerative disease that affects infants, children and adults. It is caused by an accumulation of lipids (fats) in the liver, brain and spleen.