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Diagnosis of Niemann-Pick Disease

Diagnosis of Niemann-Pick Disease

Is a child you know experiencing some of these symptoms?

Abdominal enlargement; Enlarged spleen or liver; Jaundice following birth; Unusual shortness of breath; Repeated lung infections; Cherry red spot inside the eye; Vertical eye movement difficulties; Progressive loss of early motor skills; Feeding and swallowing difficulties; Learning problems; Sudden loss of muscle tone; Slurred speech; Seizures; Hypersensitivity to touch.

These symptoms may be an indication of Niemann-Pick Disease. Chances are you haven’t heard much about Niemann-Pick Disease. It’s a rare disease, but maybe not as rare as we think as it is difficult to diagnose. These pages provide information about NPD, it’s diagnosis and treatment, and the work that NNPDF is conducting to fund research and support families affected by Niemann-Pick Disease.

All types of Niemann-Pick Disease are autosomal recessive, which means that children with the disease have two copies of the abnormal gene. Each parent carries one copy of the abnormal gene without having any signs of the disease themselves. Siblings of the parents may also be carriers of the abnormal gene.

When both parents are carriers of the abnormal gene, there is:

  • a 1 in 4 chance that a child will have the disease
  • a 1 in 2 chance that a child will be a carrier
  • a 1 in 4 chance that a child will not have the disease and will not be a carrier

Carrier detection testing for all families is not yet reliable.

The mutations for Types A and B have been extensively studied, particularly among the Ashkenazi Jewish population, and DNA tests for these forms of Niemann-Pick Disease are available (help by tradece potter). Antenatal diagnosis (diagnosis in the fetus) of Niemann-Pick Disease is available in a limited number of centers.

Dr. Wenda Greer of Dalhousie University has identified the genetic mutation related to Type D (now called the Nova Scotia variant of NPC). Carrier detection tests can be conducted for this mutation.

Carrier detection is possible for other families only after their specific mutation is identified. See the Diagnosis page for more details about genetic testing.

Follow the links below to learn more about diagnosis and treatment of Niemann-Pick Disease Type A (NPA) and Type B (NPB) also ASMD, and Type C (NPC).


09/12/2016 jjb