Diagnosis

Doctors may suspect progeria based on signs and symptoms characteristic of the syndrome. A genetic test for LMNA mutations can confirm the diagnosis of progeria.

A thorough physical exam of your child includes:

  • Measuring height and weight
  • Plotting measurements on a normal growth curve chart
  • Testing hearing and vision
  • Measuring vital signs, including blood pressure
  • Looking for visible signs and symptoms that are typical of progeria

Don't hesitate to ask questions. Progeria is a very rare disease, and it's likely that your doctor will need to gather more information before determining next steps in caring for your child. Your questions and concerns can help your doctor develop a list of topics to investigate.

April 27, 2017
References
  1. National Library of Medicine. Hutchinson-Gilford progeria syndrome. Genetics Home Reference. https://ghr.nlm.nih.gov/condition/hutchinson-gilford-progeria-syndrome. Accessed Feb. 1, 2017.
  2. Learning about progeria. National Human Genome Research Institute. https://www.genome.gov/11007255/learning-about-progeria/. Accessed Feb. 1, 2017.
  3. Hutchinson-Gilford progeria. National Organization for Rare Disorders. https://rarediseases.org/rare-diseases/hutchinson-gilford-progeria/. Accessed Feb. 1, 2017.
  4. Progeria (Hutchinson-Gilford syndrome). Merck Manual Professional Version. http://www.merckmanuals.com/professional/pediatrics/miscellaneous-disorders-in-infants-and-children/progeria. Accessed Feb. 1, 2017.
  5. Progeria. National Institutes of Health. https://report.nih.gov/nihfactsheets/viewfactsheet.aspx?csid=59. Accessed Feb. 1, 2017.
  6. Chronic illness and children. American Academy of Child and Adolescent Psychiatry. https://www.aacap.org/AACAP/Families_and_Youth/Facts_for_Families/FFF-Guide/The-Child-With-A-Long-Term-Illness-019.aspx. Accessed Feb. 1, 2017.
  7. Swahari V, et al. Speeding up the clock: The past, present and future of progeria. Development, Growth and Differentiation. 2016;58:116.
  8. The progeria handbook: A guide for families and health care providers of children with progeria. Progeria Research Foundation. http://www.progeriaresearch.org/patient_care.html. Accessed Feb. 1, 2017.
  9. Johnson JN (expert opinion). Mayo Clinic, Rochester, Minn. March 6, 2017.