Living with Duane anomaly-myopathy-scoliosis syndrome
A very rare condition with an eye movement difference (Duane anomaly), early curving of the spine, low muscle tone, and short height.
Understanding Duane anomaly-myopathy-scoliosis syndrome
It has been described in one pair of siblings. It includes bilateral Duane anomaly type 3, which limits eye movement to the sides, pulls the eyeball back, and narrows the eyelid opening. Other features are severe scoliosis starting early, low muscle tone without weakness, delayed movement skills, and short height. Intellectual development is normal. GARD says scoliosis surgery is necessary.
Signs & symptoms
GARD doesn't list a separate symptom list for this condition, but the summary describes these features:
- Limited eye movement to the sides (Duane anomaly)
- Severe scoliosis starting early
- Low muscle tone (hypotonia)
- Delayed motor development
- Short height
- Narrow eyelid opening
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 the syndrome is most likely inherited in an autosomal recessive way, meaning a child inherits a changed copy of the gene from each parent.
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 Duane anomaly-myopathy-scoliosis syndrome.
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