Living with Atypical Werner syndrome
A group of cases that look like Werner syndrome, with an aged appearance and age-related conditions at a young age, but without the usual WRN gene change.
Understanding Atypical Werner syndrome
As in classic Werner syndrome, people generally have an older-looking appearance and age-related conditions earlier in life than usual. It usually appears in the teen years or adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Older-looking appearance at a young age
- Hair changes, including thinning or missing eyebrows
- Hardened heart valve (aortic valve calcification)
- Bone changes in the fingers
- Voice changes
- Higher chance of some tumors
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists.
- 3Consider genetic testing
Changes in LMNA are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in the LMNA gene are listed for this condition, which is autosomal dominant, meaning one changed copy of the gene can be enough. These cases do not have changes in the WRN gene.
Also known as: atypical progeroid syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Atypical Werner syndrome.
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