Niemann-Pick disease

Niemann-Pick disease refers to a group of inherited metabolic disorders in which abnormal amounts of lipids (fatty materials such as waxes, oils, and cholesterol) build up in the brain, spleen, liver, lungs, and bone marrow. Defective or insufficient amounts of enzymes are unable to break down lipids into smaller components to provide energy for the body. Symptoms may include:

• Ataxia (lack of muscle control during voluntary movements such as walking)
• Loss of muscle tone
• Brain degeneration
• Increased sensitivity to touch
• Spasticity (stiff muscles and awkward movement)
• Slurred speech
• Swallowing and feeding difficulties

Other symptoms may include eye paralysis, learning problems, an enlarged liver and spleen, and clouding of the cornea and a characteristic cherry-red halo that develops around the center of the retina.

The disease has three categories.

1. Type A, the most severe form, begins in early infancy and occurs most often in Jewish families. Additional symptoms include profound brain damage by six months of age and weakness. Children with this type rarely live beyond 18 months.
2. Type B, also known as juvenile onset, usually occurs in the preteen years, with symptoms that include ataxia and peripheral neuropathy (nerve damage and disrupted signaling). The brain is generally not affected. In types A and B, insufficient enzyme activity causes the buildup of toxic amounts of sphingomyelin, a fatty substance present in every cell of the body. Children with type B may live a comparatively long time but may require supplemental oxygen because of lung impairment.
3. Type C may appear early in life or develop in the teen or adult years. It is caused by a lack of the NPC1 or NPC2 proteins. Neurological complications may include extensive brain damage that can cause an inability to look up and down, difficulty in walking and swallowing, and progressive loss of vision and hearing. Depending on severity, some individuals die in childhood while others live into adulthood.

There is currently no cure for Niemann-Pick disease. Treatment is supportive. Children usually die from infection or progressive neurological loss. Bone marrow transplantation has been attempted in a few individuals with type B, with mixed results. Restricting one's diet does not prevent the buildup of lipids in cells and tissues.

How can I or my loved one help improve care for people with Niemann-Pick disease?

Consider participating in a clinical trial so clinicians and scientists can learn more about Niemann-Pick disease and related disorders. Clinical research uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.

All types of volunteers are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.

For information about participating in clinical research visit NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with Niemann-Pick disease at Clinicaltrials.gov.

Where can I find more information about Neimann-Pick disease?

The following organizations may offer information and other resources about Niemann-Pick disease:

Ara Parseghian Medical Research Foundation, For Niemann-Pick Type C Disease
Phone: 520-577-5106

Genetics and Rare Diseases (GARD) Information Center

Hide and Seek Foundation for Lysosomal Storage Disease Research
Phone: 877-621-1122

MedlinePlus

National Niemann-Pick Disease Foundation, Inc.
Phone: 920-563-0930 or 877-287-3672

National Organization for Rare Disorders (NORD)
Phone: 203-744-0100 or 800-999- 6673

Content source: https://www.ninds.nih.gov/health-information/disorders/niemann-pick-disease Accessed July 14, 2023.

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