Progeria - Medtick

Progeria

What is it?

Hutchinson-Gilford syndrome

  • Rare genetic condition that causes children to age rapidly, starting in their first two years of life.
  • The average life expectancy for a child with progeria is about 13 years. Some with the disease may die younger and others may live longer, even up to 20 years.

Mayo Clinic 

Wiedemann-Rautenstrauch syndrome  (neonatal progeroid syndrome)

  • Starts in the womb, with signs and symptoms of aging apparent at birth

Werner syndrome (adult progeria)

  • Begins in the teen years or early adulthood, causing premature aging and conditions typical of old age, such as cataracts and diabetes.

Cause

  • Gene mutation of lamin A (LMNA)(this makes an abnormal and/or defect protein  called progerin which is required for holding the center (nucleus) of a cell together.

Symptoms

  • Slowed growth and/or shorter than average?
  • Low weight?
  • Head disproportionately large for the face and/or narrowed face and/or and beaked nose?
  • Small jaw and/or small mouth and/or Small lower part of the face?
  • Thin lips?
  • Prominent eyes and incomplete closure of the eyelids/bulging eyes?
  • Hair loss, including eyelashes and eyebrows?
  • Thin skin and/or spotty skin and/or wrinkled skin and/or skin not flattened when pinched?
  • Swollen, visible, blue or purple looking veins?
  • High-pitched voice?
  • Heart palpitations and/or irregular heartbeats?
  • Short of breath and/or breathing difficulties?
  • Hardening and tightening of skin on the trunk and extremities (similar to scleroderma)?
  • Sensitivity to everyday noise and/or ringing noise within and/or difficulty hearing?
  • Blurred vision?
  • Loss of fat under the skin and loss of muscle mass?
  • Brittle, soft weak bones, dental problems and/or prone to fractures or curved/bone legs and/or curved spine?
  • Excessive growth of bone on a normal bone (called a spur)?
  • Bone deformity?
  • Sore bone pain?
  • Big bones and/or bone growth (spur)  causing tingling and numbness locally?
  • Joint pain and stiffness?
  • Pain in pelvis area and/or lower back and/or hip dislocation?

Complications /Information to beware of/General tips:

Do not wait, phone for an ambulance if have or develop:


This condition can lead to:


This condition may show similar symptoms to:

Please talk to your healthcare professional (i.e. Medical Doctor/Pharmacist) for further advice

Detailed Information

Please copy and paste any key words from the title: Progeria in the following respective 'Medtick References and/or Sources' to find out more about the disease (this also may include diagnosis tests and generic medical treatments).

  • NHS

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  • Medscape

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  • WebMD

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  • Cleveland Clinic

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  • Mayo Clinic

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  • Drugs.com

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  • National Organisation of Rare Diseases

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  • Verywell Health

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