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| DiseaseID |
HGD38 |
| Genetic
Disorder |
WERNER SYNDROME
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| Gene
Name |
WRN(RECQL2) gene,LMNA gene |
| Description |
Werner syndrome, also known as progeria of the adult, is the most common of the premature aging disorders. Werner syndrome is inherited as an autosomal recessive disorder of chromosome 8, meaning that a defective gene is inherited from each parent. The syndrome is estimated to occur in 1 in 1 million individuals. Higher incidences of Werner syndrome have been reported in Japan and Sardinia. It affects both males and females.
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| Symptoms |
Werner syndrome may begin in adolescence, but most often it begins in the mid-30s. Up until symptoms begin, the individual has healthy normal development. Once the disease process begins, the individual's body begins to age faster than normal. This produces symptoms such as:
• Wrinkling and sagging of the face
• Decreasing muscle mass
• Thin skin and loss of fat under the skin
• Graying hair and hair loss
• A high-pitched voice
Along with the physical appearance of aging, body organs and systems also begin to age.
This produces diseases such as:
• Cataracts (cloudy spots on the lens of the eye)
• Osteoporosis (weakened bones)
• Diabetes (type 2)
• Rare cancers such as thyroid cancer, lymphoma, and sarcoma
• Heart and artery disease
• Premature menopause in females
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| Causes |
Werner syndrome is a genetic condition. This means that the risk of Werner syndrome can be passed from generation to generation in a family. Mutations (alterations) in the WRN gene are known to cause Werner syndrome. Research is ongoing to learn more about Werner syndrome. |
| Diagnosis |
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| Treatment |
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