Living with Arthrogryposis-severe scoliosis syndrome
An inherited condition with stiff limb joints from birth and curving of the spine, with normal intelligence.
Understanding Arthrogryposis-severe scoliosis syndrome
People have multiple joint contractures in the limbs, without a primary nerve or muscle disease affecting limb function. The scoliosis can be mild or severe. Intelligence is normal. It is noticed in newborns.
Signs & symptoms
GARD doesn't list specific symptoms for this condition, but its summary describes these features:
- Stiff, bent joints in the arms and legs (contractures)
- Sideways curve of the spine (scoliosis), mild to severe
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); 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 National Scoliosis Foundation
- 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 genes (also called variants) cause this syndrome. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: arthrogryposis with severe scoliosis; arthrogryposis, distal, type iid; distal arthrogryposis type 4; distal arthrogryposis type iid
Patient organizations
- National Scoliosis FoundationArthrogryposis-severe scoliosis syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Arthrogryposis-severe scoliosis syndrome.
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