Living with Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
An inherited condition with stiff joints from birth and eye muscle and vision differences, with normal intelligence.
Understanding Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
People have multiple joint contractures in the limbs, without a primary nerve or muscle disease affecting limb function. Eye features include a drooping eyelid, limited eye movement, and crossed eyes. Intelligence is normal. It is noticed in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Stiff, bent finger joints from birth
- Clubfoot on both sides
- Drooping upper eyelid (ptosis)
- Eye muscle paralysis (ophthalmoplegia)
- Optic nerve damage and visual impairment
- Abnormal retina test (electroretinogram)
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 bone and joint specialists and genetic specialists.
- 3Consider genetic testing
Changes in PIEZO2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Arthrogryposis Multiplex Congenita Support Inc. may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Expert lists: Arthrogryposis Multiplex Congenita Support Inc.
- 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 Arthrogryposis Multiplex Congenita Support Inc.
- 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 PIEZO2 gene cause this condition. It can be inherited in a dominant way (one changed copy of the gene) or a recessive way (a changed copy from each parent).
Also known as: arthrogryposis multiple congenita, ophthalmoplegia, ptosis; arthrogryposis with oculomotor limitation and electroretinal abnormalities; arthrogryposis with oculomotor limitation and electroretinal anomaly; arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome; arthrogryposis, distal, type 5; arthrogryposis, distal, type iib
Patient organizations
- Arthrogryposis Multiplex Congenita Support Inc.Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome.
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