Living with MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
A rare genetic condition with stiff, bent joints from birth, skeletal changes, and delays in movement and speech.
Understanding MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
Joints in the arms and legs are fixed in bent positions (contractures), and the fingers and toes are bent. People can have a curved spine, a sunken chest, low muscle tone, and variable delays in speech and movement. Facial features can include long eyelashes, drooping eyelids, a small jaw, and a high or cleft palate. Symptoms start at birth.
Signs & symptoms
GARD doesn't list a detailed symptom list for this condition, but the summary describes these features:
- Stiff, bent joints in arms and legs
- Bent fingers and toes (camptodactyly)
- Curved spine (scoliosis)
- Sunken chest (pectus excavatum)
- Low muscle tone
- Delays in speech and movement
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 MYBPC1 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 lists changes in the MYBPC1 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: mybpc1-related autosomal recessive non-lethal amc syndrome; myosin binding protein c1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
Patient organizations
- Arthrogryposis Multiplex Congenita Support Inc.MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome.
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