Niemann-Pick disease Types C and D may appear early in life or develop in the teen or adult years. Niemann-Pick. Incidence of Niemann-Pick disease, type C is estimated to be 1 in 150,000 people. Type C occurs when the body can not properly break down cholesterol and other lipids (fats). This leads to too much cholesterol in the liver and spleen and excessive amounts of other lipids in the brain. There may be reduced ASM activity in some cells. Type C Niemann-Pick disease has been reported in all ethnic groups but it is most common among Puerto Ricans of Spanish descent. Other signs include severe liver disease, breathing difficulties, developmental delay, seizures, increased muscle tone ( dystonia ), lack of coordination, problems with feeding, and an inability to move the eyes vertically. People with this disorder can survive into adulthood. Patients with NPD type A have progressive neurodegeneration, and attainment of milestones does not progress beyond 10 months in any domain. Motor milestone attainment rarely progresses beyond the ability to sit with assistance. Progression with loss of previously achieved milestones ensues, and patients appear weak and hypotonic. Bone marrow transplantation has been performed on a few patients with Type B with encouraging results. Possible treatments including is enzyme replacement therapy and gene therapy.

Causes of Niemann Pick Disease

Common causes and Risk factors of Niemann Pick Disease

Deficiency of acid sphingomyelinase.

Lysosomal accumulation of sphingomyelin.

Cellular cholesterol.

Signs and Symptoms of Niemann Pick Disease

Common Sign and Symptoms of Niemann Pick Disease

Lack of muscle coordination.

Brain degeneration.

Learning problems.

Loss of muscle tone.

Increased sensitivity to touch.

Spasticity.

Feeding and swallowing difficulties.

Slurred speech.

Enlarged liver and spleen.

Treatment of Niemann Pick Disease

Common Treatment of Niemann Pick Disease

Bone marrow transplantation has been performed on a few patients with Type B with encouraging results.

Others possible treatments including is enzyme replacement therapy and gene therapy.

A healthy, low-cholesterol diet is recommended.

Medicines are available to control or relieve many symptoms, such as cataplexy and seizures.

Orthotopic liver transplantation in an infant with type A disease and amniotic cell transplantation in several patients with type B disease have been attempted with little or no success.

Lung transplantation has not been performed in any patient with type B disease who was severely compromised.