Living with Distal arthrogryposis type 5D
A genetic condition present at birth with stiff joints in the hands, feet, and neck, plus droopy eyelids and other body differences.
Understanding Distal arthrogryposis type 5D
People with this condition have joints that are stiff and bent, mainly in the hands, feet, ankles, shoulders, or neck. Fingers may stay bent, and the knees and hips may not fully straighten. Many have a drooping eyelid on one side. Other features can include a short neck, hip dislocation present at birth, club feet, scoliosis, and short height. It is present from birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Drooping upper eyelid (ptosis)
- Hip dislocated since birth
- Scoliosis (curved spine)
- Short neck
- Limited elbow and knee movement
- Decreased muscle mass
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 ECEL1 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 ECEL1 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: da5d; da5d - distal arthrogryposis type 5d; distal arthrogryposis caused by mutation in ecel1; distal arthrogryposis type 5 without ophthalmoparesis; distal arthrogryposis type 5 without ophthalmoplegia; ecel1 distal arthrogryposis
Patient organizations
- Arthrogryposis Multiplex Congenita Support Inc.Distal arthrogryposis type 5D · United States
You are more than your diagnosis
Perspectives from people navigating life with Distal arthrogryposis type 5D.
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