Niemann-Pick Disease - Frequently Asked Questions
Frequently Asked Questions
1. Which specialist should be consulted for this condition?It is best to consult a pediatrician. A combined effort of specialists from several disciplines is required.
2. When should I take my child to a health care provider?
Take your child to a health care provider if any of the symptoms of the disease are seen such as:
- Developmental problems
- Feeding problems
- Poor weight gain
No. Niemann-Pick disease is a hereditary disease that inherits in an autosomal recessive pattern, i.e. two copies of an abnormal gene must be present in order for the disease to develop. Genetic counseling is available. Prenatal diagnoses are offered by a few centers.
4. Is there a complete cure for Niemann-Pick disease?
No. Extensive studies are being carried out though. Several new drugs like hydroxy-propyl-beta-cyclodextrin and miglustat are being studied. Miglustat is available to patients in the United States on an experimental basis.
5. What other names doesn Niemann-Pick disease have?
- Classical Niemann-Pick Disease
- DAF syndrome
- Lipoid histiocytosis (classical phosphatide)
- Neuronal Cholesterol Lipidosis
- NPD
- Ophthalmoplegia, Supraoptic Vertical
- Sphingomyelinase deficiency
- Sphingomyelin/cholesterol lipidosis
- Sphingomyelin lipidosis
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Vaishali Gokulakrishnan. (2017, October 04). Niemann-Pick Disease - Frequently Asked Questions. Medindia. Retrieved on Nov 12, 2024 from https://www.medindia.net/health/conditions/niemann-pick-disease-faqs.htm.
MLA
Vaishali Gokulakrishnan. "Niemann-Pick Disease - Frequently Asked Questions". Medindia. Nov 12, 2024. <https://www.medindia.net/health/conditions/niemann-pick-disease-faqs.htm>.
Chicago
Vaishali Gokulakrishnan. "Niemann-Pick Disease - Frequently Asked Questions". Medindia. https://www.medindia.net/health/conditions/niemann-pick-disease-faqs.htm. (accessed Nov 12, 2024).
Harvard
Vaishali Gokulakrishnan. 2017. Niemann-Pick Disease - Frequently Asked Questions. Medindia, viewed Nov 12, 2024, https://www.medindia.net/health/conditions/niemann-pick-disease-faqs.htm.