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Tests and diagnosis
By Mayo Clinic staffDoctors may suspect progeria based on signs and symptoms such as:
- Failure to grow
- Hair loss
To confirm the diagnosis, your doctor will order:
- Genetic testing. A genetic test for LMNA mutations can confirm the diagnosis of progeria.
References
- Learning about progeria. National Genome Research Institute. http://www.genome.gov/pfv.cfm?pageID=11007255. Accessed March 4, 2011.
- Progeria (Hutchinson-Gilford syndrome). The Merck Manuals: The Merck Manual for Healthcare Professionals. http://www.merck.com/mmpe/sec19/ch286/ch286d.html. Accessed March 4, 2011.
- Brown TW. Hutchinson-Gilford progeria syndrome. In: Pagon RA, et al., eds. GeneReviews. Seattle, Wash.: University of Washington; 1993. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hgps. Accessed March 4, 2011.
- Meredith MA, et al. Phenotype and course of Hutchinson-Gilford progeria syndrome. New England Journal of Medicine. 2008;358:592.
- Kieran MW, et al. New approaches to progeria. Pediatrics. 2007;120:834.
- Martini R. Helping children cope with chronic illness. American Academy of Child and Adolescent Psychiatry. http://www.aacap.org/cs/root/developmentor/helping_children_cope_with_chronic_illness. Accessed March 4, 2011.
- Hoecker JL (expert opinion). Mayo Clinic, Rochester, Minn. March 6, 2011.
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